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Inv dup del(4)(:p14 ? p16.3::p16.3 ? qter) with manifestations of partial duplication 4p and Wolf-Hirschhorn syndrome

✍ Scribed by Kondoh, Yuki ;Toma, Takaya ;Ohashi, Hirofumi ;Harada, Naoki ;Yoshiura, Ko-ichiro ;Ohta, Tohru ;Kishino, Tatsuya ;Niikawa, Norio ;Matsumoto, Naomichi


Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
138 KB
Volume
120A
Category
Article
ISSN
0148-7299

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?Tandem? duplication of 4p16.1p16.3 chro
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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