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True fetal mosaicism of an isochromosome of the long arm of a chromosome 20: the dilemma persists
Author(s) -
Pfeiffer R. A.,
Ulmer R.,
Rauch A.,
Trautmann U.,
Beinder E.,
Rupprecht T.,
Mayer U.,
Steinkirchner B.,
Wündisch G. F.
Publication year - 1997
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/(sici)1097-0223(199712)17:12<1171::aid-pd181>3.0.co;2-k
Subject(s) - isochromosome , long arm , dilemma , aneuploidy , chromosome , fetus , genetics , medicine , biology , karyotype , pregnancy , philosophy , gene , epistemology
We report the prenatal findings of mos 46,XY/46,XY,i(20q) after amniocentesis. The propositus presented with two epidermal scalp scars, retrobulbar orbital cysts, and dyssegmentation of the thoracic spine. The abnormal cell line was discovered in cells cultured from the proximal umbilical cord and—by fluorescence in situ hybridization (FISH)—in interphase nuclei from buccal epithelium and urinary sediment but not from the placenta, lymphocytes, or skin fibroblasts. © 1997 John Wiley & Sons, Ltd.