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Down syndrome with pure partial trisomy 21q22 due to a paternal insertion (4;21) uncovered by uncultured amniotic fluid interphase FISH
Author(s) -
Lee J.,
Stanley J.R.,
Vaz S.A.,
Mulvihill J.J.,
Wilson P.,
HopcusNiccum D.,
Li Shibo
Publication year - 2004
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30449
Subject(s) - interphase , amniotic fluid , trisomy , fish <actinopterygii> , aneuploidy , down syndrome , biology , genetics , chromosome , pregnancy , fetus , gene , fishery
Objective: To emphasize the usefulness and reliability of fluorescence in situ hybridization (FISH) on uncultured amniotic fluid cells in the prenatal diagnosis of common chromosomal aneuploidies. Methods: FISH analyses utilizing centromeric, locus‐specific or whole chromosome paint DNA probes specific for chromosomes X, Y, 13, 18, 21, and 4 were performed on uncultured amniotic fluid cells or the peripheral blood specimen from the father. Routine chromosome analysis was carried out as well. Results: A prenatal case with partial trisomy 21 due to a paternal cryptic insertion (4;21) was ascertained by a rapid overnight FISH on uncultured amniotic fluid cells. The fetus was delivered at term and had classical features of Down syndrome. Conclusion: Our results stress the importance of FISH on uncultured amniotic fluid cells to supplement routine cytogenetics, especially in cases with abnormal ultrasound findings. © 2004 Wiley‐Liss, Inc.