Ann Genet. 1999;42(2):101-4.

Characterization of a partial trisomy 16q with FISH. Report of a patient and review of the literature.

Engelen JJ, De Die-Smulders CE, Vos PT, Meers LE, Albrechts JC, Hamers AJ.

Department of Molecular Cell Biology and Genetics, Maastricht University, The Netherlands.

Abstract

Characterization of a partial trisomy 16 q with FISH: Report of a patient and literature review: We report on a 28-year-old male patient with severe growth and mental retardation, severe behavioural problems, especially automutilation, and a spastic quadriplegia. He showed no specific dysmorphism. The karyotype was 46, XY, dir dup(16) (q11.2-q13). The clinical and cytogenetical findings are compared with 3 previously reported cases with proximal duplication 16q.

PMID: 10434124 [PubMed - indexed for MEDLINE]

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Characterization of a partial trisomy 16q with FISH. Report of a patient and rev...
Characterization of a partial trisomy 16q with FISH. Report of a patient and review of the literature.
Ann Genet. 1999 ;42(2):101-4.

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Characterization of a partial trisomy 16q with FISH. Report of a patient and review of the literature.

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