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Unusual chromosomal mosaicism in Wolf-Hirschhorn syndrome: del(4)(p16)/der(4)(qter-q31.3::pter-qter)

✍ Scribed by Syrrou, M. ;Borghgraef, M. ;Fryns, J.-P.

Publisher: John Wiley and Sons
Year: 2001
Tongue: English
Weight: 284 KB
Volume: 104
Category: Article
ISSN: 0148-7299
DOI: 10.1002/1096-8628(20011201)104:3<199::aid-ajmg10058>3.0.co;2-4

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Chromosome imbalance affecting the short arm of chromosome 4 results in a variety of distinct clinical conditions. Most of them share a number of manifestations, such as mental retardation, microcephaly, pre-and post-natal growth retardation, anteverted and low-set ears, that can be considered as no