✦ LIBER ✦

True agonadism: Report of a case analyzed with Y-specific DNA probes

✍ Scribed by Maciel-Guerra, Andréa T. ;Farah, Solange B. ;Garmes, Heraldo M. ;Pinto, Walter ;Da Silva, Joaquim M. Bustorff ;Baptista, Maria Teresa ;Marques-de-Faria, Antonia Paula ;Guerra, Gil ;De Mello, Maricilda P.

Publisher: John Wiley and Sons
Year: 1991
Tongue: English
Weight: 220 KB
Volume: 41
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320410412

No coin nor oath required. For personal study only.

✦ Synopsis

We report on a 5-year-old girl with a male karyotype (46,XY), severe psychomotor and physical retardation, minor anomalies, and female external genitalia with a blindly ending vagina. She has normal adrenal function, prepubertal serum gonadotropin and testosterone levels, which did not rise after hCG stimulation. On abdominal exploration no go- nads were found, and only mesonephric and Mullerian remnants. She was HY positive, and no deletion was detected in the Y chromosome using 5 different probes. Although a genetic defect is not excluded, pregnancy complications suggest an environmental insult to the developing testes.

📜 SIMILAR VOLUMES

Re: True agonadism: Report of a case ana

Re: True agonadism: Report of a case analyzed with Y-specific DNA probes

✍ Sybert, Virginia P. ;Pagon, Roberta A. ;Ramsdell, Linda ;Marymee, Kathi 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 121 KB

Identification of a case of Y:18 translo

Identification of a case of Y:18 translocation using a Y-specific repetitive DNA probe

✍ Y. -F. Lau; K. L. Ying; G. N. Donnell 📂 Article 📅 1985 🏛 Springer 🌐 English ⚖ 1021 KB

DNA analysis of a patient with two diffe

DNA analysis of a patient with two different marker chromosomes using Y-specific DNA probes

✍ Takashi Tamura; Yoshikazu Kuroki; Shigeo Nagafuchi; Seizo Suwa; Yutaka Nakahori; 📂 Article 📅 1991 🏛 Nature Publishing Group 🌐 English ⚖ 491 KB

Identification of the origin of ring/mar

Identification of the origin of ring/marker chromosomes in patients with ullrich-turner syndrome using X and Y specific alpha satellite DNA probes

✍ Tharapel, Sugandhi A. ;Wilroy, R. Sid ;Keath, Amber M. ;Rivas, Marian L. ;Tharap 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 385 KB 👁 2 views

Translocation t(1;17)(q12;q25) with a cl

Translocation t(1;17)(q12;q25) with a clinical picture like of a proximal deletion of 1q: identification by in situ hybridization with chromosome 1-specific satellite DNA probes

✍ Swetlana G. Vorsanova; Y. B. Yurov; M. B. Kurbatov; L. Z. Kazantzeva 📂 Article 📅 1990 🏛 Springer 🌐 English ⚖ 189 KB

The authors report a case of a balanced 1;17 translocation with breakpoints located in the secondary constriction of chromosome 1. This translocation is associated with pathological symptoms similar to those observed following a proximal deletion of lq. We request contact with colleques who have obs