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A family with partial duplication/deletion 4p due to a balanced t (4; 15) (p16.2; p11.2) translocation

✍ Scribed by Lingqian Wu; Dahua Meng; Zhongmin Zhou; Juan Du; Zhigao Long; Desheng Liang


Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
412 KB
Volume
155
Category
Article
ISSN
1552-4825

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πŸ“œ SIMILAR VOLUMES


Molecular and clinical description of a
✍ Laila Zahed; Carolina Sismani; M. Ioannides; Monzer Saleh; G. Koumbaris; Mazen K πŸ“‚ Article πŸ“… 2008 πŸ› John Wiley and Sons 🌐 English βš– 158 KB

## Abstract We report on a 13‐year‐old female with short stature, minimal axillary and pubic hair, no breast development, absence of uterus and ovaries, with the following karyotype on lymphocyte cultures: 46,X,t(Y;4)(q11.2;p16)[40]/45,X,der(4)t(Y;4)(q11.2;p16)[10]. Loss of the small derivative Y c

Two sibs with different phenotypes due t
✍ Qumsiyeh, Mazin B. ;Stevens, Cathy A. πŸ“‚ Article πŸ“… 1993 πŸ› John Wiley and Sons 🌐 English βš– 495 KB

High-resolution chromosome banding and in situ hybridization with combined cosmid and alphoid sequence probes were used to delineate a very small reciprocal translocation in a mother and her two children. The first child has a 46,XX,der(4)t(4;5)(pl6.3;p15.3)mat and thus has a deletion of 4p16.Gpter