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Clin Dysmorphol. 2003 Jan;12(1):35-9.

Familial cryptic translocation with deletion 4q33-->4qter and duplication 7q34-->7qter in brothers with mental retardation, macrocephaly and iris coloboma.

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  • 1Department of Clinical Genetics, University Hospital Maastricht, PO Box 1475, 6201 BL Maastricht, The Netherlands. ute.moog@gen.unimaas.nl

Abstract

The association of moderate mental retardation, behavioural problems, macrocephaly, dysmorphic features with iris coloboma, and supernumerary nipples was observed in two brothers with a terminal deletion 4q33-->4qter and a terminal duplication 7q34-->7qter. The aberration was detected by subtelomere FISH screening and (probably) resulted from a cryptic familial translocation (4;7)(q33;q34).

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