Small inherited terminal duplication of 7q with hydrocephalus, cleft palate, joint contractures, and severe hypotonia

被引：21

作者：

Morava, É

Bartsch, O

Czakó, M

Frensel, A

Kalscheuer, V

Kárteszi, J

Kosztolányi, G

机构：

[1] Univ Pecs, Fac Med, Dept Med Genet & Child Dev, H-7623 Pecs, Hungary

[2] Tech Univ Dresden, Fac Med, Inst Clin Genet, D-8027 Dresden, Germany

[3] Univ Pecs, Fac Med, MTA PTE Clin Res Grp, Pecs, Hungary

[4] Max Planck Inst Mol Genet, Berlin, Germany

来源：

CLINICAL DYSMORPHOLOGY | 2003年 / 12卷 / 02期

关键词：

terminal duplication; chromosome; 7q; hydrocephalus; cleft palate; joint contractures; severe hypotonia;

D O I：

10.1097/01.mcd.0000059768.40218.9b

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report a 14-month-old girl with submucous cleft palate, resolving mild hydrocephalus, severe hypotonia and joint contractures. The finding of extreme hydrocephalus, cleft palate and club feet in a fetus of the mother's previous pregnancy suggested an inherited defect. Chromosome analysis and FISH studies in the proband revealed an abnormal homolog 13 resulting in a duplication of distal chromosome 7q, 7q35-qter, and a very small associated deletion of distal chromosome 13q 13q34-qter. The mother showed the balanced translocation. Similar clinical signs have been described with larger distal 7q duplications. Our findings suggest that 7q35-qter, and possibly the gene for sonic hedgehog (SHH) on 7q36, is the critical region for the typical facial features and the profound hypotonia observed in the 'trisomy of distal 7q' syndrome.

引用

页码：123 / 127

页数：5

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