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First reported case of interstitial 15 q15.3‐q21.3 deletion diagnosed prenatally and characterized with array CGH in a fetus with an isolated short femur
Author(s) -
Abdelhedi Fatma,
Corcos Johanna,
Cuisset Laurence,
Tsatsaris Vassilis,
Tantau Julia,
Le Tessier Dominique,
Lebbar Aziza,
Dupont JeanMichel
Publication year - 2012
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.34416
Subject(s) - fluorescence in situ hybridization , fetus , karyotype , craniosynostosis , comparative genomic hybridization , autopsy , biology , chromosome , anatomy , prenatal diagnosis , pathology , genetics , medicine , gene , pregnancy
We report on a fetus with an isolated short femur detected by ultrasound and a de novo interstitial deletion of chromosome 15. The deletion was diagnosed prenatally by karyotype and further mapped by fluorescence in situ hybridization (FISH) and array comparative genomic hybridization (array‐CGH) to bands 15q15.3 to 15q21.3 with a size of 11.11 Mb. Fetal autopsy showed characteristic minor anomalies, urinary abnormalities, and delayed bone maturation, but neither craniosynostosis, nor congenital heart defects as observed in previously reported cases. Despite the existence of ultrasound abnormalities, all five cases reported so far were diagnosed after birth. This is the first case of an interstitial deletion involving chromosomal band 15q15.3‐q21.3 diagnosed prenatally and characterized at the molecular level. Our observation suggests the absence of imprinted genes in the area of 15q15–q22 and strengthens the hypothesis that a critical region for craniosynostosis may be mapped outside the deleted region in the present patient. © 2012 Wiley Periodicals, Inc.