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Identification of a Genetic Locus for Ichthyosis Vulgaris on Chromosome 10q22.3–q24.2

✍ Scribed by Liu, Ping; Yang, Qingyu; Wang, Xu; Feng, Aiping; Yang, Tao; Yang, Rong; Wang, Pengyun; Yuang, Mingxiong; Liu, Mugen; Liu, Jing Yu

Book ID
110050168
Publisher
Nature Publishing Group
Year
2008
Tongue
English
Weight
356 KB
Volume
128
Category
Article
ISSN
0022-202X

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Identification and molecular confirmatio
Identification and molecular confirmation of a small chromosome 10q duplication [dir dup(10)(q24.2→q24.3)] inherited from a mother mosaic for the abnormality
✍ Tonk, Vijay ;Schneider, Nancy R. ;Delgado, Mauricio R. ;Mao, Jen-i ;Schultz, Rog 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 21 KB 👁 3 views

We describe a family in which two siblings exhibited developmental delay, reduced muscle tone and mild muscle weakness. Cytogenetic evaluation demonstrated that both children had a tandem duplication of a small portion of the long arm of chromosome 10 [46,XX or XY,dir dup(lO)(q24.2+q24.3)], inherite