RING CHROMOSOME IN A CASE OF DI GUGLIELMO SYNDROME
β Scribed by Di Grado, Francisco; Mendes, FernandoTeixeira; Schroeder, Ernesto
- Book ID
- 122898889
- Publisher
- The Lancet
- Year
- 1964
- Tongue
- English
- Weight
- 326 KB
- Volume
- 284
- Category
- Article
- ISSN
- 0140-6736
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Ring Y chromosome 45,X/46,X,r(Y) was identified by fluorescence in a child with ambiguous external genitalia, urogenital sinus, vagina, uterus, and Fallopian tubes. Testicular tissue was noted on gonadal biopsy.
A newborn female infant presented with abnormalities of the external genitalia including a 3 Γ 1 cm phallic structure, a perineal urethral opening, bifid scrotum, and a single urogenital opening. Peripheral blood karyotype was 45,X[81]/46,X,+r(Y)[19], however, there were no signs of Ullrich-Turner s
A case of D ring chromosome identified with trypsin banding as a 13 with loss of the bands p12 and q34 is reported. The clinical features characteristically associated with the loss of these specific segments were present.