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Terminal tandem duplication of 16p: a case with "pure" partial trisomy (16) (pter-->p13)

Tschernigg, M.; Petek, E.; Leonhardtsberger, A.; Wagner, K.; Kroisel, P.M.

Genetic Counseling 13(3): 303-307

2002

ISSN/ISBN: 1015-8146
PMID: 12416638
Document Number: 551342
A new-born infant was found to have multiple congenital anomalies Including bilateral cleft of lip and palate, club-hands and feet, and heart defects. High resolution chromosome analysis showed a de novo tandem duplication of the terminal part of the short arm of chromosome 16, resulting in a dup(16)(pter-->p13). Fluorescent in situ hybridization with a chromosome 16-specific paint confirmed that the extra material belonged to chromosome 16.

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