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Interstitial 6q deletion with a Prader--Willi-like phenotype: a new case and review of the literature

✍ Scribed by H. Jacobus Gilhuis; Conny Ma van Ravenswaaij; Ben J.C. Hamel; Fons J.M. Gabreëls


Book ID
114464814
Publisher
Elsevier Science
Year
2000
Tongue
English
Weight
252 KB
Volume
4
Category
Article
ISSN
1090-3798

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Proximal interstitial deletion of 7q: A
✍ Zackowski, Joleen L. ;Raffel, Leslie J. ;Blank, Carol A. ;Schwartz, Stuart 📂 Article 📅 1990 🏛 John Wiley and Sons 🌐 English ⚖ 447 KB 👁 2 views

A male infant with multiple congenital anomalies was found to have a deletion of 7q [46,XY,del(7)(pter+ql1.2:: q22-3qter)l. The father had a balanced rearrangement involving chromosomes 7 and 9, interpreted as 46,XY,dir ins(9;7) (9pter+ 9p12::7q22+ 7q11.2:: 9p12-3 9qteq7pter-3 7q11.2 :: 7q22-3 7qter