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Molecular and clinical characterization of a recurrent cryptic unbalanced t(4q;18q) resulting in an 18q deletion and 4q duplication

✍ Scribed by Craig Horbinski; Erika M. Carter; Patricia L. Heard; Malini Sathanoori; Jie Hu; Jerry Vockley; Shelly Gunn; Daniel E. Hale; Urvashi Surti; Jannine D. Cody


Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
264 KB
Volume
146A
Category
Article
ISSN
1552-4825

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## 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