Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling 
path array CGH.

Tzschach, Andreas; Menzel, Corinna; Erdogan, Fikret; Schubert, Marei; Hoeltzenbein, Maria; Barbi, Gotthold; Petzenhauser, Christine; Ropers, Hans-Hilger; Ullmann, Reinhard; Kalscheuer, Vera M.

doi:10.1002/ajmg.a.31601

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Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH.

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Tzschach, Andreas
Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

Menzel, Corinna
Max Planck Society;

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Erdogan, Fikret
Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

Schubert, Marei
Max Planck Society;

Hoeltzenbein, Maria
Max Planck Society;

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Ropers, Hans-Hilger
Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Ullmann, Reinhard
Molecular Cytogenetics (Reinhard Ullmann), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Kalscheuer, Vera M.
Chromosome Rearrangements and Disease (Vera Kalscheuer), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

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引用

Tzschach, A., Menzel, C., Erdogan, F., Schubert, M., Hoeltzenbein, M., Barbi, G., Petzenhauser, C., Ropers, H.-H., Ullmann, R., & Kalscheuer, V. M. (2007). Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH. American Journal of Medical Genetics, 143 A(4), 333-337. doi:10.1002/ajmg.a.31601.

引用: https://hdl.handle.net/11858/00-001M-0000-0010-8267-4

要旨

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.