Article
Isodicentric Y chromosomes in Egyptian patients with disorders of sex development (DSD).
American journal of medical genetics. Part A - 1 Jul 2012
Mekkawy Mona, Kamel Alaa, El-Ruby Mona, Mohamed Amal, Essawi Mona, Soliman Hala, Dessouky Nabil, Shehab Marwa, Mazen Inas
Abstract excerpt
Isodicentric chromosome formation is the most common structural abnormality of the Y chromosome. As dicentrics are mitotically unstable, they are subsequently lost during cell division resulting in mosaicism with a 45,X cell line. We report on six patients with variable signs of disorders of sex development (DSD) including ambiguous genitalia, short stature, primary amenorrhea, and male infertility with...
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