A family with partial duplication/deletion 4p due to a balanced t (4; 15) (p16.2; p11.2) translocation
β 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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## Abstract We report on a 13βyearβold 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
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