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

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http://pubman.mpdl.mpg.de/cone/persons/resource/persons50369

Kalscheuer,  V.
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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Citation

Morava, E., Bartsch, O., Czako, M., Frensel, A., Kalscheuer, V., Karteszi, J., et al. (2003). Small inherited terminal duplication of 7q with hydrocephalus, cleft palate, joint contractures, and severe hypotonia. Clinical Dysmorphology, 12(2), 123-127.


Cite as: http://hdl.handle.net/11858/00-001M-0000-0010-8A77-4
Abstract
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.