Syndrome of proximal interstitial deletion 4p15: Report of three cases and review of the literature
โ Scribed by Chitayat, David ;Ruvalcaba, Rogelio H. A. ;Babul, Riyana ;Teshima, Ikuko E. ;Posnick, Jeffrey C. ;Vekemans, Michel J. J. ;Scarpelli, Helene ;Thuline, Horace
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 684 KB
- Volume
- 55
- Category
- Article
- ISSN
- 0148-7299
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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
We report on a 13-year-old boy who had an interstitial deletion of the long arm of chromosome 6[46,XY,del(6)(pter+q13::q15+qter)]. A characteristic facial appearance with facial asymmetry, vertebral anomalies, vdgus heels with flat feet, and congenital heart defect seem to form part of a specific de