Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGHHow to cite this article: Tzschach A, Menzel C, Erdogan F, Schubert M, Hoeltzenbein M, Barbi G, Petzenhauser C, Ropers H‐H, Ullmann R, Kalscheuer V. 2007. Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH. Am J Med Genet Part A.

Autor: Tzschach, Andreas, Menzel, Corinna, Erdogan, Fikret, Schubert, Marei, Hoeltzenbein, Maria, Barbi, Gotthold, Petzenhauser, Christine, Ropers, Hans‐Hilger, Ullmann, Reinhard, Kalscheuer, Vera
Zdroj: American Journal of Medical Genetics. Part A; February 2007, Vol. 143 Issue: 4 p333-337, 5p
Abstrakt: 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.
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