Proposed guidelines for diagnosis of chromosome mosaicism in amniocytes based on data derived from chromosome mosaicism and pseudomosaicism studies

Prenatal Diagnosis
L Y HsuL R Shapiro


Currently, accepted protocol which has been developed at the Prenatal Diagnosis Laboratory of New York City (PDL) requires that when a chromosome abnormality is found in one or more cells in one flask, another 20-40 cells must be examined from one or two additional flasks. Chromosome mosaicism is diagnosed only when an identical abnormality is detected in cells from two or more flasks. In a recent PDL series of 12,000 cases studied according to this protocol, we diagnosed 801 cases (6.68 per cent) of single-cell pseudomosaicism (SCPM), 126 cases (1.05 per cent) of multiple-cell pseudomosaicism (MCPM), and 24 cases (0.2 per cent) of true mosaicism. Pseudomosaicism (PM) involving a structural abnormality was a frequent finding (2/3 of SCPM and 3/5 of MCPM), with an unbalanced structural abnormality in 55 per cent of SCPM and 24 per cent of MCPM. We also reviewed all true mosaic cases (a total of 50) diagnosed in the first 22,000 PDL cases. Of these 50 cases, 23 were sex chromosome mosaics and 27 had autosomal mosaicism; 48 cases had numerical abnormalities and two had structural abnormalities. Twenty-five cases of mosaicism were diagnosed in the first 20 cells from two flasks, i.e., without additional work-up, whereas the other 2...Continue Reading


Sep 1, 1977·Canadian Journal of Genetics and Cytology. Journal Canadien De Génétique Et De Cytologie·C L RicherA Chapdelaine
Mar 1, 1975·Journal of Medical Genetics·M T TsuangL E De Bault
Jun 1, 1975·Journal of Medical Genetics·L E DeBault, K A Halmi
Apr 1, 1991·American Journal of Medical Genetics·J VockleyT L Yang-Feng
Jun 1, 1991·Prenatal Diagnosis·M DjalaliD Grab
Feb 1, 1991·Prenatal Diagnosis·J H PriestK M May
Dec 1, 1990·Prenatal Diagnosis·R Petrella, K Hirschhorn
May 1, 1990·American Journal of Medical Genetics·T S SundareshanM S Hamoud
Jul 1, 1990·Clinical Genetics·J L Welborn, J P Lewis
Jul 1, 1990·Prenatal Diagnosis·B N Chodirker, R Jenkins
Nov 1, 1990·American Journal of Medical Genetics·J P MarionJ H Priest
Aug 1, 1990·Prenatal Diagnosis·K E Richkind, N J Risch
May 1, 1990·American Journal of Medical Genetics·E McPherson, D G Stetka
Apr 1, 1990·Archives of Disease in Childhood·N J GilbertsonI Z Kovar
Apr 1, 1989·Clinical Genetics·A C CasamassimaL R Shapiro
Apr 1, 1989·American Journal of Medical Genetics·M G WilsonF M Kaplan
Aug 1, 1989·Prenatal Diagnosis·S SchwartzM M Cohen
Sep 1, 1989·Prenatal Diagnosis·S StiouiG Simoni
May 1, 1988·Journal of Medical Genetics·F De KeyserM Matton
Jul 1, 1987·Human Genetics·I VoiculescuW Schempp
Apr 1, 1986·American Journal of Medical Genetics·L C KaplanS A Latt
Feb 1, 1987·Prenatal Diagnosis·K E RichkindS M Puck
Jan 1, 1987·American Journal of Medical Genetics·M S VerpA H Moawad
Jan 1, 1985·Clinical Genetics·H F de FranceS C Schaminée-Main
Jan 1, 1984·Prenatal Diagnosis·R G Worton, R Stern
Jul 1, 1984·Prenatal Diagnosis·P K JensenU Friedrich
Jun 1, 1984·Clinical Genetics·S M PfluegerC M Moore
Jan 1, 1984·Human Genetics·U ClaussenH J Trampisch
Mar 1, 1983·American Journal of Medical Genetics·S R PatilJ W Hanson
Apr 1, 1981·Journal of Medical Genetics·S ColdwellC Bateman
Jan 1, 1980·Human Genetics·E YunisJ G Uribe
Jan 1, 1981·Clinical Genetics·C MetaxotouN Matsaniotis

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May 11, 2016·The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·L A Méndez-RosadoE Morales
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Feb 1, 1997·Prenatal Diagnosis·B Sikkema-RaddatzG J Te Meerman
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