✦ LIBER ✦

Partial trisomy 15q1

✍ Scribed by R. A. Pfeiffer; E. Kessel

Publisher: Springer
Year: 1976
Tongue: English
Weight: 438 KB
Volume: 33
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00447290

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✦ Synopsis

A supernumerary extra chromosome of maternal origin, precisely described from QM- and C-banding patterns, was studied in a mentally defective boy with a severe convulsive disorder. This case is considered to represent a specific phenotype of trisomy 15q1. The suggestion that in cases of partial trisomy 15q different phenotypes are due to the second chromosome involved in interchange is supported by the observation of a tertiary trisomy in 2 sibs. It resulted from a balanced reciprocal translocation in the mother t(8q+15q--) and caused an unusual malformation syndrome (mental deficiency, cleft lip and palate, funnel chest, hypospadias).

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