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Duplication of chromosome region 4q28.3-qter in monozygotic twins with discordant phenotypes

✍ Scribed by Celle, Livija ;Lee, Laura ;Rintoul, Natalie ;Savani, Rashmin C. ;Long, Wendy ;Mennuti, Michael T. ;Krantz, Ian D.

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 432 KB
Volume: 94
Category: Article
ISSN: 0148-7299
DOI: 10.1002/1096-8628(20000911)94:2<125::aid-ajmg5>3.0.co;2-f

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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