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Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH
Author(s) -
Tzschach Andreas,
Menzel Corinna,
Erdogan Fikret,
Schubert Marei,
Hoeltzenbein Maria,
Barbi Gotthold,
Petzenhauser Christine,
Ropers HansHilger,
Ullmann Reinhard,
Kalscheuer Vera
Publication year - 2007
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.31601
Subject(s) - haploinsufficiency , breakpoint , microcephaly , biology , comparative genomic hybridization , locus (genetics) , genetics , penetrance , chromosomal translocation , karyotype , short stature , chromosomal deletion , chromosome 7 (human) , chromosomal region , chromosome , gene , phenotype , endocrinology
Abstract We report on a 42‐year‐old female patient with an interstitial 16 Mb deletion in 7q21.1‐21.3 and a balanced reciprocal translocation between chromosomes 6 and 7 [karyotype 46,XX,t(6;7)(q23.3;q32.3)del(7)(q21.1q21.3)de novo]. We characterized the size and position of the deletion by tiling path array comparative genomic hybridization (CGH), and we mapped the translocation breakpoints on chromosomes 6 and 7 by FISH. The clinical features of this patient—severe mental retardation, short stature, microcephaly and deafness—are in accordance with previously reported patients with 7q21 deletions. Chromosome band 7q21.3 harbors a locus for split hand/split foot malformation (SHFM1), and part of this locus, including the SHFM1 candidate genes SHFM1 , DLX5 , and DLX6 , is deleted. The absence of limb abnormalities in this patient suggests either a location of the SHFM1 causing factor distal to this deletion, or reduced penetrance of haploinsufficiency of a SHFM1 factor within the deleted interval. © 2007 Wiley‐Liss, Inc.