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Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features
Author(s) -
Bisgaard AnneMarie,
Kirchhoff Maria,
Tümer Zeynep,
Jepsen Birgit,
BrøndumNielsen Karen,
Cohen Monika,
HamborgPetersen Bente,
Bryndorf Thue,
Tommerup Niels,
Skovby Flemming
Publication year - 2006
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.31425
Subject(s) - chromosomal translocation , karyotype , breakpoint , cytogenetics , biology , genetics , molecular cytogenetics , chromosome , chromosomal inversion , comparative genomic hybridization , copy number variation , microbiology and biotechnology , genome , gene
The detection of chromosomal abnormalities in patients with mental retardation (MR) and dysmorphic features increases with improvements of molecular cytogenetic methods. We report on six patients referred for detailed characterization of chromosomal abnormalities (four translocations, one inversion, one deletion) detected by conventional cytogenetics, in whom metaphase CGH revealed imbalances not involved in the initially detected rearrangements. The detected abnormalities were validated by real‐time PCR. Parents were investigated by CGH in four cases. The genomic screening revealed interstitial deletions of 2q33.2‐q34, 3p21, 4q12‐q13.1, 6q25, 13q22.2‐q31.1, and 14q12. The estimated minimum sizes of the deletions ranged from 2.65 to 9.27 Mb. The CGH assay did not reveal imbalances that colocalized with the breakpoints of the inversion or the translocations. The deletion of 6q included ESR1 , in which polymorphisms are associated with variation of adult height. FOXG1B , known to be involved in cortical development, was located in the 14q deletion. The results illustrate that whole‐genome molecular cytogenetic analysis of phenotypically affected patients with abnormal conventional karyotypes may detect inapparent molecular cytogenetic abnormalities in patients with microscopic chromosomal abnormalities and that these data provide additional information of clinical importance. © 2006 Wiley‐Liss, Inc.