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Prenatal detection of mosaic isochromosome 20q: a fourth report with abnormal phenotype
Author(s) -
Goumy C.,
Beaufrère A. M.,
Francannet C.,
Tchirkov A.,
Laurichesse Delmas H.,
Geissler F.,
Lemery D.,
Dechelotte P. J.,
Vago P.
Publication year - 2005
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/pd.1216
Subject(s) - isochromosome , amniocentesis , karyotype , biology , prenatal diagnosis , phenotype , chromosomal abnormality , abnormality , genetics , aborted fetus , fetus , camptodactyly , pathology , medicine , pregnancy , chromosome , gene , psychiatry
We described a new case of mosaic isochromosome 20q revealed by amniocentesis. The propositus presented with craniofacial dysmorphism, clubfeet, and vertebral abnormalities. A 46,XX,i(20)(q10)[14]/46,XX[1] karyotype was confirmed by FISH on cultured cells. The pregnancy was terminated. From review of literature, fetus with mosaic isochromosome 20q identified on amniocentesis are most likely to be phenotypically and cytogenetically normal after birth. So we performed CGH and array‐CGH to exclude another possible imbalance. We discuss here the possible relation between this chromosomal abnormality and the abnormal phenotype. Copyright © 2005 John Wiley & Sons, Ltd.