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De novo direct Tandem duplication of the short arm of chromosome 7(p21.1-p14.2)

✍ Scribed by Dȩbiec-Rychter, Maria ;Overhauser, Joan ;Kałuźewski, Bogdan ;Jakubowski, Lucjusz ;Truszczak, Barbara ;Wilson, Wesley ;Skorski, Maria ;Jackson, Laird


Publisher
John Wiley and Sons
Year
1990
Tongue
English
Weight
463 KB
Volume
36
Category
Article
ISSN
0148-7299

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Direct duplication of chromosome 1, dir
✍ Mohammed, F. M. A. ;Farag, T. I. ;Gunawardana, S. S. ;Al-Digashim, D. D. ;Al-Awa 📂 Article 📅 1989 🏛 John Wiley and Sons 🌐 English ⚖ 210 KB

Here we describe a Bedouin boy with a de novo duplication of l p and multiple congenital anomalies. He had microcephaly, convergent squint, anteverted nostrils, malformed ears, micrognathia, hypoplasia of the terminal phalanges, clinodactyly of 5th fingers, simian creases, left inguinal hernia, cryp