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Familial double pericentric inversion of chromosome 5 with some features of cri-du-chat syndrome

✍ Scribed by Sheryl A. Goodart,Merlin G. Butler,Joan Overhauser


Book ID
118292215
Publisher
Springer
Year
1996
Tongue
English
Weight
249 KB
Volume
97
Category
Article
ISSN
0340-6717

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## Abstract Two syndromes with abnormalities of the short arm of chromosome 5 have been described: cri‐du‐chat (resulting from 5p deletion) and trisomy 5p. We report for the first time a patient with both syndromes, resulting from a complex chromosomal rearrangement with an inverted duplication of