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.
A case of ring Y chromosome
โ Scribed by J. L. Taillemite; J. Akker; M. F. Portnoi; N. Porrier; D. Marmor; J. Bouillie; Ch. Roux
- Book ID
- 104707517
- Publisher
- Springer
- Year
- 1978
- Tongue
- English
- Weight
- 164 KB
- Volume
- 42
- Category
- Article
- ISSN
- 0340-6717
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โฆ Synopsis
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.
๐ SIMILAR VOLUMES
A newborn female infant presented with abnormalities of the external genitalia including a 3 ร 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 newborn male infant presented with midshaft hypospadias, chordee, and undescended left testis. Both gonads lacked the tunica albuginea and appeared to be adjacent to structures resembling fallopian tubes. On biopsy, there was marked dysgenesis of both gonads, with a paucity of testicular tubules a