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ACC (1994)
Cytogenetic analysis of chorionic villi for prenatal diagnosis: an ACC collaborative study of
Association of Clinical Cytogeneticists Working Party on chorionic villi in prenatal diagnosis
Prenat. Diagn. 1994 (14) 363-379.

Ammala (1993)

Randomized trial comparing first-trimester transcervical chorionic villus sampling and second-trimester amniocentesis,
Ammala P., Hiilesmaa, V.K., Liukkonen, S., Saisto, T., Teramo, K., von Koskull, H
Prenat. Diagn. 1993 (13) 919-927.

Appleman (1991)
Trisomy 9 confined to the placenta: prenatal diagnosis and neonatal follow-up,
Appleman, Z., Rosensaft, J., Chemke, J., Caspi, B., Ashkenazi, M., Mogilner, M.B.
Am. J. Med. Genet. 1991 (40) 464-466.

Ariel (1997)
Trisomy 2: confined placental mosaicism in a fetus with intrauterine growth retardation,
Ariel, I., Lerer, I., Yagel, S., Cohen, R., Ben-Neriah, Z., Abelovich, D.
Prenat. Diagn. 1997 (17) 180-183.

Artan (1995)
Confined placental mosaicism in term placentae: analysis of 125 cases,
Artan S, Basaran N, Hassa H, Ozalp S, Sener T, Sayli BS, Cengiz C, Ozdemir M, Durak T, Dolen I, et al.
Prenat. Diagn. 1995 (15) 1135-1142.

Astner A (1998)
Sonographically detected fetal and placental abnormalities associated with trisomy 16 confined to the placenta. A case report and review of the literature.
Astner A, Schwinger E, Caliebe A, Jonat W, Gembruch U.
Prenat. Diagn. 1998 (18) 1308-1315

Bartels (1986)
bref clinical report: chromosomal mosaicism of trisomy 7 restricted to chorionic villi,
Bartels, I., Rauskolb, R., Hansmann, I.
Am. J. Med. Genet. 1986 (25) 161-162.

Bartels I (1989)
Down syndrome at birth not detected by first trimester chorionic villus sampling
Bartels I, Hansmann I, Holland U, Zoll B, Rauskolb R.
Am. J. Med. Genet. 1989 (34) 606-607

Bartels I (1997)
Normal outcome of a pregnancy with mosaicism for double trisomy in amniotic fluid cells.
Bartels I, Franke U, Braulke I, Rauskolb R, Raab-Vetter M.
Prenat. Diagn. 1997 (17:9) 877-878

Bennett (1992)
Association between confined placental trisomy, fetal uniparental disomy and early intrauterine growth retardation,
Bennett, P., Vaughan., J., Henderson, D., Loughna., S., Moore., G.
Lancet 1992 (340) 1284-1285.

Bischoff (1995)
Mosaicism for trisomy 12: four cases with varying outcomes,
Bischoff, F.Z., Zenger-Hain, J., Moses, D., van Dyke, D.L., Schaffer, L.G.
Prenat. Diagn. 1995 (15) 1017-1026.

Brandenburg H (1996)
Clinical significance of placenta-confined nonmosaic trisomy 16
Brandenburg H, Los FJ, Veld PI
Am. J. Obstet. Gynecol. 1996 (174(5)) 1663-1664

Breed (1990)
The predictive value of cytogenetic diagnosis after CVS: 1500 cases,
Breed, A.S.P.M., Mantingh, A., Beekhuis, J.R., Kloosterman, M.D., ten Bolscher, H., Anders,
Prenat. Diagn. 1990 (10) 101-110.

Breed (1991)
Follow-up and pregnancy outcome after a diagnosis of mosaicism in CVS,
Breed, A.S.P.M., Mantingh, A., Vosters, R., Beekhuis, J.R., van Lith, J.M.M., Anders, G.J.P.A.
Prenat. Diagn. 1991 (11) 577-580.

Callen (1988)
Extra embryonic/fetal karyotypic discordance during diagnostic chorionic villus sampling,
Callen, D.F., Korban, G., Dawson, G., Gugasyan, L., Krumins, E.J.M., Eichbaum, S., Petrass, J., Purvis-Smith, S., Smith, A., den Dulk, G., Martin, N.
Prenat. Diagn. 1988 (8) 453-460.

Cartolano R (1993)
Prenatal Confirmation of trisomy 12 mosaicism by fetal skin biopsy
Cartolano R, Guerneri S, Fogliani R, Galimberti A, Nicolini U
Prenat. Diagn. 1993 (13) 1057-1059

Caspari (1994)
Discrepant karyotypes after second- and third-trimester combined placentesis/amniocentesis,
Caspari, D., Bartels, I., Rauskolb, R., Prange, G., Osmers, R., Eiben, B.
Prenat. Diagn. 1994 (14) 569-576.

Cassidy (1992)
Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal
Cassidy, S.B., Lai, L.-W., Ericson, R.P., Magnuson, L., Thomas, E., Gendron, R., Hermann, J.
Am. J. Hum. Genet. 1992 (51) 701-708.

Chen CP. (2000)
Cytogenetic discrepancy between fetal tissue and body fluid in a fetus with cystic hygroma
Chen CP.
Prenat. Diagn. 2000 (20) 933-934

Cheung (1987)
Chromosome mosaicism and maternal cell contamination in chorionic villi,
Cheung, S.W., Crane, J.P., Beaver, H.A., Burgess, A.C.
Prenat. Diagn. 1987 (7) 535-542.

Crane (1988)
An embryonic model to explain cytogenetic inconsistencies observed in chorionic villus versus
Crane, J.P., Cheung, S.W.
Prenat. Diagn. 1988 (8) 119-129.

Dalprů (1993)
'Late' chorionic villus sampling: cytogenetic aspects,
Dalprů, L., Nocera, G., Tibiletti, M.G., Martinoli, E., Oldrini, A., Agosti, S., Crosignani,
Prenat. Diagn. 1993 (13) 239-246.

de Pater (1997)
Maternal uniparental disomy for chromosome 22 in a child with generalised mosaicism for trisomy
de Pater, J.M., Schuring-Blom, G.H., van den Bogaard, R., van der Sijs-Bos, C.J.M., Christiaens, G.C.M.L., Stoutenbeek, PH., Lescot, N.J.
Prenat. Diagn. 1997 (17) 81-86.

de Pater JM (2000)
Trisomy 8 in chorionic villi-unpredictable results in follow-up
de Pater JM, Schuring-Blom GH, Nieste-Otter MA, van Nesselrooij B, Kapitein B, Christiaens GCML, Leschot NJ.
Prenat. Diagn. 2000 (20) 435-437

Delatycki MB (1998)
Trisomy 13 mosaicism at prenatal diagnosis: dilemmas in interpretation
Delatycki MB, Pertile MD, Gardner RJ.
Prenat. Diagn. 1998 (18:1) 45-49

Delozier-Blanchet (1988)
Trisomy 7 in chorionic villi: follow-up studies of pregnancy, normal child, and placental chromosome anomalies,
Delozier-Blanchet, C.D., Engel, E., Extermann, P., Pastori, B.
Prenat. Diagn. 1988 (8) 281-286.

DeLozier-Blanchet (1995)
Trisomy 3 mosaicism on CVS: case report with literature review and propositions for investigation and counseling,
DeLozier-Blanchet, C.D., Francipane, L., Morris, M.A., Hoovers, J.M.N., Leschot, N.J., Cox,
Clin. Genet. 1995 (48) 308-312.

Djalali M (2000)
Prenatally detected true double trisomy mosaic 12 and 13 not confirmed in fetal and placental tissues by conventional cytogenetic methods, but suggested by FISH analysis
Djalali M, Merk O, Storli K, Vogel W.
Prenat. Diagn. 2000 (20) 934-935

Dworniczak (1992)
Uniparental disomy with normal pheneotype,
Dworniczak, B., Koppers, B., Kurlemann, G., Holzgreve., W, Horst, J., Miny, P.
Lancet 1992 (340) 1285.

English CJ (2000)
An unusual case of trisomy and triploidy in a chorion villus biopsy.
English CJ, Atkey NW, Linton G, Napier CJ, Cameron HM, Mason GC, Murray BJ.
Prenat. Diagn. 2000 (20) 917-920

Farra C (2001)
Fetoplacental chromosomal discrepancy.
Farra C, Giudicelli B, Pellissier MC, Philip N, Piquet C.
Prenat. Diagn. 2001 (20) 190-193

Fryburg (1992)
Postnatal placental confirmation of trisomy 2 and trisomy 16 detected at chorionic villus sampling: a possible association with intrauterine growth retardation and elevated maternal serum
Fryburg, J.S., Dimaio, M.S., Mahoney, M.J.
Prenat. Diagn. 1992 (12) 157-162.

Fryburg (1993)
Follow-up of pregnancies complicated by placental mosaicism diagnosed by chorionic villus
Fryburg, J.S., Dimaio, M.S., Yang-Feng, T.L., Mahoney, M.J.
Prenat. Diagn. 1993 (13) 481-494.

Garber (1994)
Prenatal diagnosis and dysmorphic findings in mosaic trisomy 16,
Garber, A.., Carlson, D., Schreck, R., Fischel-Ghodsian, N., Hsu, W-T., Oeztas, S., Pepkowitz, S., Graham, J.M.
Prenat. Diagn. 1994 (14) 257-266.

Gibbons (1997)
Confined placental mosaicism for trisomy 2 with intrauterine growth retardation and severe oligohydramnios in the absence of uniparental disomy in the fetus,
Gibbons, B., Cheng, H.H., Yoong, A.K.H., Brown, S.
Prenat. Diagn. 1997 (17) 689-690.

Green (1988)
Chorionic villus sampling: experience with an initial 940 cases,
Green, J.E., Dorfmann, A., Jones, S.L., Bender, S., Patton, L., Schulman, J.D.
Obstet. Gynecol. 1988 (71) 208-212.

Groli (1996)
Maternal serum screening and trisomy 16 confined to the placenta,
Groli C, Cerri V, Tarantini M, Bellotti D, Jacobello C, Gianello R, Zanini R, Lancetti S,
Prenat. Diagn. 1996 (16) 685-689

Guerneri (1989)
Seven cases of trisomy 3 mosaicism in chorionic villi,
Guerneri, S., Fortuna, R., Romitti, L., Bettio, D., Simoni, G.
Prenat. Diagn. 1989 (9) 691-695.

Guichet A (1995)
Prenatal diagnosis of trisomy 8 mosaicism in CVS after abnormal ultrasound findings at 12 weeks
Guichet A, brault S, Toutain A, Paillet C, Descamps P, Pierre F, Body G, Moraine CL
Prenat. Diagn. 1995 (15) 769-772

Hahnemann (1997)
Accuracy of cytogenetic findings on chorion villus sampling (CVS) - Diagnostic consequences of CVS mosaicism and non-mosaic disrepancy in centres contributing to EUCROMIC 1986-1992,
Hahnemann, J.M., Vejerslev, L.O.
Prenat. Diagn. 1997 (17) 801-820.

Hammer (1991)
False-negative' and 'false-positive' prenatal cytogenetic results due to 'true' mosaicism,
Hammer, P., Holzgreve, W., Karabacak, Z., Horst, J., Miny, P.
Prenat. Diagn. 1991 (11) 133-136.

Hansen (1997)
Maternal uniparental disomy of chromosome 2 and confined placental mosaicism for trisomy 2 in a fetus with intrauterine growth restriction, hypospadias and oligohydramnios,
Hansen, W.F., Bernard, L.E., Langlois, S., Rao, K.W., Chescheir, N.C., Aylsworth, A.S., Smith, D.I., Robinson, W.P., Barrett, I.J., Kalousek, D.K.
Prenat. Diagn. 1997 (17) 443-450.

Harrison (1995)
Maternal uniparental disomy of chromosome 2 in a baby with trisomy 2 mosaicism in amniotic
Harrison, K., Eisenger, K., Anyane-Yeboa, K., Brown, S.
Am. J. Med. Genet. 1995 (58) 147-151.

Hashish (1989)
Trisomy 16 detected at chorion villus sampling,
Hashish, A.F., Monk, N.A., Lovell-Smith, M.P.F., Bardwell, L.M., Fiddes, T.M., Gardner, R.J.M.
Prenat. Diagn. 1989 (9) 427-432.

Heim (1985)
Chromosome analysis in 100 cases of first trimester trophoblast sampling,
Heim, S., Kristoffersson, U., Mandahl, N., Mineur, A., Mitelman, F., Edvall, H., Gustavii, B.
Clin. Genet. 1985 (27) 451-457.

Hogge (1986)
Chorionic villus sampling: experience of the first 1000 cases,
Hogge, W.A., Schonberg, S.A., Golbus, M.S.
Am. J. Obstet. Gynecol. 1986 (154) 1249-1252.

Hsu Te-Yao (1996)
Prenatal detection of two different monosomic cell lines by chorionic villus sampling
Hsu Te-Yao, Liou Jui-Der, Copel JA, Mahoney M, Breg WR, Yang-Feng TL
Prenat. Diagn. 1996 (16) 169-172

Johnson (1990)
Mosaicism in chorionic villus sampling: an association with poor perinatal outcome, .
Johnson, A., Wapner, R.J., Davis, G.H., Jackson, L.G.
Obstet. Gynecol. 1990 (75) 573-577

Johnson P (2000)
Apparent confined placental mosaicism of trisomy 16 and multiple fetal anomalies: case report
Johnson P, Duncan K, Blunt S, Bell G, Ali Z, Cox P, Moore GE
Prenat. Diagn. 2000 (20) 417-421

Jones (1995)
Identification of a case of maternal uniparental disomy of chromosome 10 associated with confined placental mosaicism,
Jones, C., Booth, C., Rita, D., Jazmines, L., Spiro, R., McCulloch, B., McCaskill, C., Shaffer,
Prenat. Diagn. 1995 (15) 843-848.

Kalousek (1983)
Chromosomal mosaicism confined to the human placenta in human conceptions,
Kalousek, D.K., Dill, F.J.
Science 1983 (221) 665-667.

Kalousek (1987)
Confined chorionic mosaicism in prenatal diagnosis,
Kalousek, D.K., Dill, F.J., Pantzar, T., McGillivray, B.C., Yong, S.L., Wilson, R.D.
Hum. Genet. 1987 (77) 163-167.

Kalousek (1991)
Confirmation of CVS mosaicism in term placentae and high frequency of intrauterine growth retardation association with confined placental mosaicism,
Kalousek, D.K., Howard-Peebles, P.N., Olson, S.B., Barrett, I.J., Dorfmann, A., Black, S.H., Schulman, J.D., Wilson, R.D.
Prenat. Diagn. 1991 (11) 743-750.

Kalousek (1993)
Uniparental disomy for chromosome 16 in humans,
Kalousek, D.K., Langlois, S., Barrett, I., Yam, I., Wilson, D.R., Howard-Peebles, P.N., Johnson, M.P., Giorgiutti, E.
Am. J. Hum. Genet. 1993 (52) 8-16.

Kalousek (1996)
Trisomy 7 CVS mosaicism: pregnancy outcome, placental and DNA analysis in 14 cases,
Kalousek, D.K., Langlois, S., Robinson, W.P., Telenius, A., Bernard, L., Barrett, I.J., Howard-Peebles, P.N., Wilson, R.D.
Am. J. Med. Genet. 1996 (65) 348-352.

Kennerknecht (1990)
Intrauterine growth retardation associated with chromosomal aneuploidy confined to the placenta. Three observations: triple trisomy 6, 21, 22; trisomy 16; and trisomy 18,
Kennerknecht, I., Terinde, R.
Prenat. Diagn. 1990 (10) 539-544.

Kennerknecht (1993)
Cytogenetic diagnoses are less reliable in very-high- or very-low-risk pregnancies,
Kennerknecht, I., Barbi, G., Wolf, M., Djalali, M., Grab, D., Terinde, R., Vogel, W.
Prenat. Diagn. 1993 (13) 929-944.

Kennerknecht I (1998)
False-negative findings in chorionic villus sampling. An experimental approach and review of
Kennerknecht I, Barbi G, Djalali M, Mehnert K, Schneider M, Terinde R, Vogel W
Prenat. Diagn. 1998 (18) 1276-1282

Klein (1994)
Trisomy 8 mosaicism in chorionic villus sampling: case report and counselling issues,
Klein, J., Graham, J.M. Jr., Platt, L.D., Schreck, R.
Prenat. Diagn. 1994 (14) 451-454.

Knoblauch H (1999)
Fetal trisomy 10 mosaicism: ultrasound, cytogenetic and morphologic findings in early pregnancy
Knoblauch H, Sommer D, Zimmer C, Tennstedt C, Heling K, Bollmann R, Bommer C, Tinschert S,
Prenat. Diagn. 1999 (19) 379-382

Kuchinka BD (2001)
Two cases of confined placental mosaicism for chromosome 4, including one with maternal uniparental disomy
Kuchinka BD, Barrett IJ, Moya G, Sánchez JM, Langlois S, Yong S-L, Kalousek DK, Robinson WP
Prenat. Diagn. 2001 (21) 36-39

Langlois (1995)
Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7,
Langlois, S., Yong, S.L., Wilson, R.D., Kwong, L.C., Kalousek, D.K.
J. Med. Genet. 1995 (32) 871-875.

Ledbetter (1992)
Cytogenetic results from the U.S. collaborative study on CVS,
Ledbetter, D.H., Zachary, J.M., Simpson, J.L., Golbus, M.S., Pergament, E., Jackson, L., Mahoney, M.J., Desnick, R.J., Schulman, J., Copeland, K.L. Verlinsky. Y., Tang-Feng, T., Schonberg, S.A., Babu, A., Tharapel, A., Dorfmann, A., Lubs, H.A., Rhoads, G.G., Fowler, S.E., de la Cruz, F.
Prenat. Diagn. 1992 (12) 317-345.

Leschot (1988)
False negative findings at third trimester chorionic villus sampling (C.V.S.),
Leschot, N.J., Wolf, H., Weenink, G.H.
Clin. Genet. 1988 (34) 204-205.

Leschot (1989)
Cytogenetic findings in 1250 chorionic villus samples obtained in the first trimester with clinical follow-up of the first 1000 cases,
Leschot, N.J., Wolf, H., van Prooijen-Knegt, A.C., van Asperen, C.J., Verjaal, M., Schuring-Blom, G.H., Boer, K., Kanhai, H.H.H., Christiaens, G.C.M.L.
Br. J. Obstet. Gynaecol. 1989 (96) 663-670.

Leschot (1991)
Is placental mosaicism associated with poor perinatal outcome?,
Leschot, N.J., Wolf, H.
Prenat. Diagn. 1991 (11) 403-404.

Leschot (1996)
The outcome of pregnancies with confined placental mosaicism in cytotrophoblast cells,
Leschot, N.J., Schuring-Blom, G.H., Van Prooijen-Knegt, A.C., Verjaal, M., Hansson, K., Wolf, H., Kanhai, H.H.H., Van Vugt, J.M.G., Christiaens G.C.M.L.
Prenat. Diagn. 1996 (16) 705-712.

Lilford (1991)
Short-term culture and false -negative results for Down's syndrome on chorionic villus
Lilford, R.J., Caine, A., Linton, G., Mason, G.
Lancet 1991 (337) 861.

Los FJ (1998)
Abnormal karyotypes in semi-direct chorionic villus preparations of women with different
Los FJ, van den Berg C, van Opstal D, Noomen P, Braat APG, Galjaard RJH, Pijpers L, Cohen-Overbeek TE, WildSchut HIJ, Brandenburg H.
Prenat. Diagn. 1998 (18) 1023-1040

Markovic (1996)
Trisomy 15 mosaic derived from trisomic conceptus: report of a case and a review,
Markovic, V.D., Chitayat, D.A., Ritchie, S.M., Chodakowski, B.A., Hutton, E.M.
Am. J. Med. Genet. 1996 (61) 363-370.

McKinley (1988)
Mosaic trisomy 7 confined to the placenta,
McKinley, M.J., Kearney, L.U., Nicolaides, K.H., Rosevear, S.K., Bradley, R., Heron, O.,
Am. J. Med. Genet. 1988 (31) 697-699.

Micale (1996)
Cytogenetic and molecular genetic characteriization of trisomy 20 mosaicism in fetal blood and
Micale, M.A., Wolff, D.J., Dickerman, L.H., Redline, R., Conroy, J.M., Schwartz, S.
Prenat. Diagn. 1996 (16) 893-897.

Miller KR (2001)
Patient with trisomy 6 mosaicism
Miller KR, Muhlhaus K, Herbst RA, Bohnhorst B, Bohmer S, Arslan-Kirchner M
Am. J. Med. Genet. 2001 (100) 103-105

Miny (1988)
False negative cytogenetic result in direct preparations after chorionic villus sampling,
Miny, P., Basaran, S., Holzgreve, W., Horst, J., Pawlowitzki, I,H., Ngo, T.K.N.
Prenat. Diagn. 1988 (8) 633.

Miny (1991)
Mosaicism and accuracy of prenatal cytogenetic diagnoses after chorionic villus sampling and placental biopsies,
Miny, P., Hammer, P., Gerlach, B., Tercanli, S., Horst, J., Holzgreve, W., Eiben, B.
Prenat. Diagn. 1991 (11) 581-589.

Morichon-Delvallez (1993)
Trisomy 15 in chorionic villi and Prader-Willi syndrome at birth,
Morichon-Delvallez, N., Mussat, P., Dumez, Y., Vekemans, M.
Prenat. Diagn. 1993 (13) 307-308.

Morssink (1996)
Placental mosaicism is associated with unexplained second-trimester elevation of MShCG levels, but not with elevation of MSAFP levels,
Morssink, L.P., Sikkema-Raddatz, B., Beekhuis, J.R., De Wolf, B.T.H.M., Mantingh, A.
Prenat. Diagn. 1996 (16) 845-851.

Murer-Orlando M (1990)
Prenatal diagnosis of chromosome abnormalities: A comparison of the results of various techniques, with special emphasis on mosaicism
Murer-Orlando M, Zahed L, Docherty Z
Genetica 1990 (83) 61-65

Nisani (1989)
The dilemma of chromosomal mosaicism in chorionic villus sampling - 'direct' versus long-term
Nisani, R., Chemke, J., Voss, R., Appelman, Z., Caspi, B., Lewin, A., Dar, H., Reiter, A.
Prenat. Diagn. 1989 (9) 223-226.

O'Riordan (1996)
Case report: uniparental disomy 16 in association with congenital heart disease,
O'Riordan, S., Greenough, A., Moore, G.E., Bennett, P., Nicolaides, K.H.
Prenat. Diagn. 1996 (16) 963-965.

Palo (1994)
Transabdominal chorionic villus sampling and amniocentesis for prenatal diagnosis: 5 years' experience at a university centre,
Palo, P., Piiroinen, O., Honkonen, E., Lakkala, T., Aula, P.
Prenat. Diagn. 1994 (14) 157-162.

Paulyson KJ (1996)
Prenatal diagnosis of an infant with mosaic trisomy 16 of paternal origin
Paulyson KJ, Sherer DM, Christian SL, Lewis KM, Ledbetter DH, Salafia CM, Meck JM.
Prenat. Diagn. 1996 (16(11)) 1021-6

Pfeiffer (1984)
Prenatal diagnosis of trisomy 9 mosaicism possibly limited to fetal membranes,
Pfeiffer, R.A., Ulmer, R., Kniewald, A., Wagner-Theissen, E.
Prenat. Diagn. 1984 (4) 387-389.

Phillips OP (1996)
Risk of fetal mosaicism when placental mosaicism is diagnosed by chorionic villus sampling
Phillips OP, Tharapel AT, Lerner JL, Park VM, Wachtel SS, Shulman LP.
Am. J. Obstet. Gynecol. 1996 (174) 850-5

Phillips OP (1997)
Discordant direct and culture results following chorionic villus sampling and the diagnosis of a third cell line in the fetus
Phillips OP, Velagaleti GVN, Tharapel AT, Shulman LP
Prenat. Diagn. 1997 (17(2)) 170-172

Pindar L (1992)
A rare case of a false-negative finding in both direct and culture of a chorionic villus sample
Pindar L, Whitehouse M, O'Craft K.
Prenat. Diagn. 1992 (12) 525-527

Pittalis (1994)
The predictive value of cytogenetic diagnosis after CVS based on 4860 cases with both direct and culture methods,
Pittalis, M.C., Dalpra, L., Torricelli, F., Rizzo, N., Nocera, G., Cariati, E., Santarini, L., Tibiletti, M.G., Agosti, S., Bovicelli, L., Forabosco, A.
Prenat. Diagn. 1994 (14) 267-278.

Porter S (1999)
A Case of Discordant Related Abnormal Phenotypes from Chorionic Villi and Amniocytes
Porter S, Wilson E, Tyler X, Warren R, ffrench-Constant C, Pearson J.
Prenat. Diagn. 1999 (19) 887-890

Post JG (1992)
Trisomy 16 confined to the placenta,
Post, J.G., Nijhuis, J.G.
Prenat. Diagn. 1992 (12) 1001-1007.

Purvis-Smith (1992)
Uniparental disomy 15 resulting from "correction" of an initial trisomy 15,
Purvis-Smith, S.G., Saville, T., Manass, S., Yip, M.-Y., Lam-Po-Tang, P.R.L., Duffy, B., Johnston, H., Leigh, D., McDonald, B.
Am. J. Hum. Genet. 1992 (50) 1348-1350.

Reddy (1990)
The significance of trisomy 7 mosaicism in chorionic villus cultures,
Reddy, N.S., Blakemore, K.L., Stetten, G., Corson, V.
Prenat. Diagn. 1990 (10) 417-423.

Reigel M (2000)
Prenatal diagnosis of mosaicism for a del(22)(q13)
Reigel M, Baumer A, Wisser J, Acherman J, Schinzel A
Prenat. Diagn. 2000 (20) 76-79

Roberts (1997)
Prospective prenatal diagnosis of Prader-Willi syndrome due to uniparental disomy for chromosome 15 following trisomic zygote rescue,
Roberts, E., Stevenson, K., Cole, T., Redford, D.A., Davison, E.V.
Prenat. Diagn. 1997 (17) 780-783.

Robinson (1997)
Meiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of of trisomy in the trophoblast and increased risk of fetal
Robinson, W.P., Barrett, I.J., Bernard, L., Telenius, A., Bernasconi, F., Wilson, R.D., Best, R.G., Howard-Peebles, P.N., Langlois, S., Kalousek, D.K.
Am. J. Hum. Genet. 1997 (60) 917-927.

Roland (1994)
Confined placental mosaicism in CVS and pregnancy outcome,
Roland, B., Lynch, L., Berkowitz, G., Zinberg, R.
Prenat. Diagn. 1994 (14) 589-593.

Sachs ES (1990)
Interpretation of chromosome mosaicism and discrepancies in chorionic villi studies
Sachs ES, Jahoda MGJ, Los FJ, Pijpers L, Reuss A, Wladimiroff JW
Am. J. Med. Genet. 1990 (37) 268-271

Saks E (1998)
Confined placental mosaicism for trisomy 8 and intra-uterine growth retardation
Saks E, McCoy MC, Damron J, Kelly TE
Prenat. Diagn. 1998 (18) 1202-1204

Sánchez (1997)
Severe fetal malformations associated with trisomy 16 confined to the placenta,
Sánchez, J.M., López de Díaz, S., Panal, M.J., Moya, G., Kenny, A., Iglesias, D., Wolstenholme,
Prenat. Diagn. 1997 (17) 777-779.

Saura (1995)
Prenatal diagnosis of trisomy 9, six cases and a review of the literature,
Saura, R., Traore, W., Taine, L., Wen, Z.Q., Roux, D., Maugey-Laulom, B., Ruiffe, M., Vergnaud, A., Horivitz, J.
Prenat. Diagn. 1995 (15) 609-614.

Saura R (1998)
False-negative results of trisomy 21 on direct analysis on chorionic villus sampling
Saura R, Roux D, Maugey-Laulon B, Taine L, Wen Q, Vergnard A, Horovitz J
Prenat. Diagn. 1998 (18) 866-867

Schinzel A (2000)
Discrepancies in cytogenetic results between different tissues in two fetuses with
Schinzel A
Cytogenet. Cell Genet. 2000 (91) 231-233

Schubert (1996)
Molecular cytogenetic investigations of ten term placentae in cases of prenatally diagnosed
Schubert, R., Raff, R., Schwanitz, G.
Prenat. Diagn. 1996 (16) 907-913.

Schulze (1986)
Chromosomal mosaicism and maternal cell contamination in chorionic villi cultures,
Schulze, B., Miller, K.
Clin. Genet. 1986 (30) 239-240.

Schulze (1987)
Chromosomal mosaicism confined to chorionic tissue,
Schulze, B., Schlesinger, C., Miller, K.
Prenat. Diagn. 1987 (7) 451-453.

Schuring-Blom (1993)
Molecular cytogenetic analysis of term placentae suspected of mosaicism using fluorescence in situ hybrdisation,
Schuring-Blom, G.H., Keijzer, M., Jakobs, M.E., van den Brande, D.M., Visser, H.M., Wiegant, J., Hoovers, J.M.N., Leschot, N.J.
Prenat. Diagn. 1993 (13) 671-679.

Schwinger (1989)
Chromosome mosaicism of the placenta - a cause of developmental failure of the fetus?,
Schwinger, E., Seidl, E., Klink, F., Rehdar, H.
Prenat. Diagn. 1989 (9) 639-647.

Shaffer (1996)
Analysis of nine pregnancies with confined placental mosaicism for trisomy 2,
Shaffer, L.G., Langlois, S., McCaskill, C., Main, D.M., Robinson, W.P., Barrett, I.J., and
Prenat. Diagn. 1996 (16) 899-905.

Sikkema-Raddatz B (1999)
Trisomy 12 Mosaicism in CVS Culture Confirmed in the Fetus
Sikkema-Raddatz B, Bouman K, Verschuuren-Bemelmans CC, de Jong B
Prenat. Diagn. 1999 (19) 1176-1177

Simoni (1986)
First trimester fetal karyotyping: one thousand diagnoses,
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Hum. Genet. 1986 (72) 203-209.

Simoni (1987)
False-positive and false-negative findings on chorionic villus sampling,
Simoni, G., Fraccaro, M., Gimelli, G., Maggi, F., Dagna brcarelli, F.
Prenat. Diagn. 1987 (7) 671-672.

Simoni (1992)
Trisomy 16 confined to chorionic villi and unfavourable outcome of pregnancy,
Simoni, G., Brambati, B., Maggi, F., Jackson, L.
Ann. Génét. 1992 (35) 110-112.

Sirchia SM (1998)
Trisomic zygote rescue revealed by DNA polymorphism analysis in confined placental mosaicism
Sirchia SM, Garagiola I, Colucci G, Guerneri S, Lalatta F, Grimoldi MG, Simoni G
Prenat. Diagn. 1998 (18) 201-206

Slater (1997)
Prenatal diagnosis of Prader-Willi syndrome - uniparental disomy and the significance of residual trisomy 15,
Slater, H.R., Vaux, C., Pertile, M., Petrovic, V.
Prenat. Diagn. 1997 (17) 109-113.

Slater HR (2000)
A case of maternal uniparental disomy of chromosome 9 diagnosed prenatally and the related problem of residual trisomy
Slater HR, Ralph A, Daniel A, Worthington S, Roberts C
Prenat. Diagn. 2000 (20) 930-932

Smidt-Jensen S (1993)
Cytogenetic analysis of 2928 CVS samples and 1075 amniocenteses from randomized studies
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Prenat. Diagn. 1993 (13) 723-740

Smoleniec (1993)
Complex mosaicism associated with trisomy 9,
Smoleniec, J.S., Davies, T., Lunt, P., Berry, P.J., James, D.
Prenat. Diagn. 1993 (13) 211-213.

Soler A (1999)
Trisomy/tetrasomy 21 mosaicism in CVS: interpretation of cytogenetic discrepancies between placental and fetal chromosome complements
Soler A, Margarit E, Carrio A, Costa D, Queralt R, Ballesta F
J. Med. Genet. 1999 (36) 333-334

Stavropoulos DJ (1998)
Molecular cytogenetic detection of confined gonadal mosaicism in a conceptus with trisomy 16 placental mosaicism
Stavropoulos DJ, Bick D, Kalousek D
Am. J. Hum. Genet. 1998 (63) 1912-1914

Stioui (1989)
Trisomic 22 placenta in a case of severe intrauterine growth retardation,
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Prenat. Diagn. 1989 (9) 673-676.

Sundberg (1991)
Non-mosaic trisomy 16 on chorionic villus sampling but normal placenta and fetus after
Sundberg, K., Smidt-Jensen, S.
Lancet 1991 (i) 1233-1234.

Sundberg (1996)
Early filtration amniocentesis for further investigation of mosaicism by chorionic villus
Sundberg, K., Lundsteen, C., Philip, J.
Prenat. Diagn. 1996 (16) 1121-1127.

Teshima (1992)
Chromosome mosaicism in CVS and amniocentesis samples,
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Prenat. Diagn. 1992 (12) 443-466.

Tharapel A (1989)
Reabsorbed co-twin as an explanation for discrepant chorionic villus results: non-mosaic 47,XX,+16 in villi (direct and culture) with normal (46,XX) amniotic fluid and neonatal blood
Tharapel A, Elias S, Shulman LP, Seely L, Emerson DS, Simpson JL
Prenat. Diagn. 1989 (9) 467-472

Torricelli F (1994)
A rare case of cytogenetic discrepancy between extraembryonic and fetal tissue
Torricelli F, Lisi E, brzzi L, Mariani M, Nannini R, Cariati E
Prenat. Diagn. 1994 (14) 310-312

Towner DR (2001)
Confined placental mosaicism for trisomy 14 and maternal uniparental disomy in association with elevated second trimester maternal serum human chorionic gonadotrophin and third trimester fetal
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Prenat. Diagn. 2001 (21) 395-398

van den Berg C (2000)
Case of 45,X/46,XY mosaicism with non-mosaic discordance between short-term villi (45,X) and cultured villi (46,XY)
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Am. J. Med. Genet. 2000 (93) 230-233

van den Berg C (2000)
Accuracy of abnormal karyotypes after the analysis of both short and long term culture of
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Prenat. Diagn. 2000 (20) 956-969

van Haelst MM (2001)
Management of prenatally detected trisomy 8
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Prenat. Diagn. 2001 (21) 1075-1078

Van Opstal D (1998)
Prospective prenatal investigations on potential uniparental disomy in cases of confined
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Prenat. Diagn. 1998 (18:1) 35-44

Van Opstal D (2001)
Follow-up investigations in uncultured amniotic fluid cells after uncertain cytogenetic results
Van Opstal D, van den Berg C, Galjaard R-JH, Los FJ
Prenat. Diagn. 2001 (21) 75-80

Vaughan (1994)
Human maternal uniparental disomy for chromosome 16 and fetal development,
Vaughan, J.I., Ali, Z., Bower, S., Bennett, P., Chard, T., Moore, G.
Prenat. Diagn. 1994 (14) 751-756.

Vejerslev (1989)
The European collaborative study on mosaicism in chorionic villus sampling: data from
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Prenat. Diagn. 1989 (9) 575-588.

Verjaal (1987)
Karyotypic differences between cells from placenta and other fetal tissues,
Verjaal, M., Leschot, N.J., Wolf, H., Treffers, P.E.
Prenat. Diagn. 1987 (7) 343-348.

Verp (1989)
Non-mosaic trisomy 16 confined to villi,
Verp, M.S., Rosinsky, B., Sheikh, Z., Amarose, A.P.
Lancet 1989 (ii) 915-916.

Von Koskull H (1989)
Trisomy 12 mosaicism in amniocytes and dysmorphic child despite normal chromosomes in fetal
Von Koskull H, Ritvanen A, Ammala P, Gahmberg N, Salonen R.
Prenat. Diagn. 1989 (9) 433-437

Wang (1993)
Mosaicism in chorionic villus sampling: an analysis of incidence and chromosomes involved in 2612 consecutive cases,
Wang, B.T., Rubin, C.H., Williams III, J.
Prenat. Diagn. 1993 (13) 179-190.

Wang (1994)
Chorionic villi sampling: laboratory experience with 4000 consecutive cases,
Wang, B.T., Peng, W., Cheng, K-T., Chiu, S-F., Ho, W., Khan, Y., Wittman, M., Williams III, J.
Am. J. Med. Genet. 1994 (53) 307-316.

Wapner (1992)
Chorionic mosaicism: association with fetal loss but not with adverse perinatal outcome,
Wapner, R.J., Simpson, J.L., Golbus, M.S., Zachary, J.M., Ledbetter, D.H., Desnick, R.J., Fowler, S.E., Jackson, L.G., Lubs, H., Mahony, R.J., Pergament, E., Rhoads, G.G., Shulman, J.D., de
Prenat. Diagn. 1992 (12) 347-355.

Webb (1995)
A case of paternal uniparental disomy for chromosome 11,
Webb, A., Beard, J., Wright, C., Robson, S., Wolstenholme, J., Goodship, J.
Prenat. Diagn. 1995 (15) 773-777.

Webb (1996)
Maternal UPD for chromosome 2 in association with confined placental mosaicism for trisomy 2 and severe IUGR,
Webb, A., Sturgiss, S., Warwicker, P., Robson. S.C., Goodship, J., Wolstenholme, J.
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Wegner (1988)
Trisomy 14 mosaicism leading to cytogenetic discrepancies in chorionic villi sampled at
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Prenat. Diagn. 1988 (8) 239-243.

Whiteford (1995)
Uniparental isodisomy for chromosome 16 in a growth-retarded infant with congenital heart
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Prenat. Diagn. 1995 (15) 579-584.

Wilkinson (1996)
A case of maternal uniparental disomy of chromosome 9 in association with confined placental mosaicism for trisomy 9,
Wilkinson, T.A., James, R.S., Crolla, J.A., Cockwell, A.E., Campbell, P.L., Temple, I.K.
Prenat. Diagn. 1996 (16) 371-374.

Williams (1992)
Apparent non-mosaic trisomy 16 in chorionic villi: diagnostic dilemma or clinically significant
Williams, J., Wang, B.B.T., Rubin, C.H., Clark, R.D., Mohandas, T.K.
Prenat. Diagn. 1992 (12) 163-168.

Wirtz (1991)
Trisomy 18 in chorionic villus sampling: problems and consequences,
Wirtz, A., Gloning, K.-Ph., Murken, J.
Prenat. Diagn. 1991 (11) 563-567.

Wolstenholme (1994)
Confined placental mosaicism, IUGR, and adverse pregnancy outcome: a controlled retrospective UK collaborative study,
Wolstenholme, J., Rooney, D.E., Davison, E.V.
Prenat. Diagn. 1994 (14) 345-361.

Woo (1997)
Maternal uniparental disomy for chromosome 16: case report,
Woo, V., brdge, P.J., Bamforth, J.S.
Am. J. Med. Genet. 1997 (70) 387-390.

Zimmermann (1995)
Elevated alpha-fetoprotein and human chorionic gonadotrophin as a marker for placental trisomy 16 in the second trimester?,
Zimmermann, R., Lauper, U., Streicher, A., Huch, R., Huch, A.
Prenat. Diagn. 1995 (15) 1121-1124.

 

 

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