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Dermatoglyphics in dup(4p15→4pter) syndrome

✍ Scribed by Katznelson, M. Bat-Miriam ;Halal, Fahed


Book ID
101443264
Publisher
John Wiley and Sons
Year
1983
Tongue
English
Weight
146 KB
Volume
15
Category
Article
ISSN
0148-7299

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dup(4p 15→4pter) in a 19-year-old woman
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## Abstract We describe a 19‐year‐old woman who has a duplication of 4p. The karyotype is 46,XX, – 14, + der(14),t(4;14) (p15;p12)mat in lymphocytes and skin fibroblasts. The patient has coarse hair, prominent forehead and tip of nose, coloboma, scoliosis, and mental retardation.

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A trisomy 4pl4->4pter in a 15-year-old girl is reported. The main features are physical and mental retardation and the absence of gross malformations. The relevance of other symptoms found in the patient is discussed. Zusammen]assung. Es wird fiber eine Trisomie 4pl4~4pter bet einem 15j/ihrigen M~d

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## Background: Wolf-hirschhorn syndrome (whs), caused by the deletion of a segment in chromosome 4, is characterized by mental and developmental defects. clinical manifestations of whs include intrauterine growth restriction, failure to thrive in the neonatal period that is present simultaneously w