✦ LIBER ✦

Swyer Syndrome and 46,XY Partial Gonadal Dysgenesis Associated with 9p Deletions in the Absence of Monosomy-9p Syndrome

✍ Scribed by R.A. Veitia; M. Nunes; L. Quintana-Murci; R. Rappaport; E. Thibaud; F. Jaubert; M. Fellous; K. McElreavey; J. Gonçalves; M. Silva; J. Cidade Rodrigues; M. Caspurro; F. Boieiro; R. Marques; J. Lavinha

Book ID: 117852546
Publisher: American Society of Human Genetics
Year: 1998
Tongue: English
Weight: 583 KB
Volume: 63
Category: Article
ISSN: 0002-9297
DOI: 10.1086/302023

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

The presence of the testicular determini

The presence of the testicular determining sequence, SRY, in 46,XY females with gonadal dysgenesis (Swyer syndrome)

✍ Behzadian, M. Ali; Tho, Sandra P.T.; McDonough, Paul G. 📂 Article 📅 1991 🏛 Elsevier Science 🌐 English ⚖ 847 KB

Description and molecular analysis of SR

Description and molecular analysis of SRY and AR genes in a patient with 46,XY pure gonadal dysgenesis (Swyer syndrome)

✍ Dimitrios Iliopoulos; Nikolaos Volakakis; Alexandra Tsiga; Israel Rousso; Nikola 📂 Article 📅 2004 🏛 Elsevier Science 🌐 English ⚖ 116 KB

Absence of inactivating mutations and de

Absence of inactivating mutations and deletions in the DMRT1 and FGF9 genes in a large cohort of 46,XY patients with gonadal dysgenesis

✍ Machado, Aline Zamboni; da Silva, Thatiana Evilen; Frade Costa, Elaine Maria; do 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 215 KB

Gonadoblastoma-associated mixed germ cel

Gonadoblastoma-associated mixed germ cell tumour in 46,XY complete gonadal dysgenesis (Swyer syndrome): analysis of Y chromosomal genotype and OCT3/4 and TSPY expression profile

✍ S B Ng; M H Yong; L A Knight; V K M Lee; S Nadarajah; H Stoop; L H J Looijenga 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 557 KB

Cryptic 7q21 and 9p23 deletions in a pat

Cryptic 7q21 and 9p23 deletions in a patient with apparently balanced de novo reciprocal translocation t(7;9)(q21;p23) associated with a dystonia-plus syndrome: paternal deletion of the epsilon-sarcoglycan (SGCE) gene

✍ C. Bonnet; M.-J. Grégoire; M. Vibert; E. Raffo; B. Leheup; P. Jonveaux 📂 Article 📅 2008 🏛 Nature Publishing Group 🌐 English ⚖ 478 KB

Breakpoint mapping in a case of mosaicis

Breakpoint mapping in a case of mosaicism with partial monosomy 9p23 → pter and partial trisomy 1q41 → qter suggests neo-telomere formation in stabilizing the deleted chromosome

✍ Leslie D. Kulikowski; Laurie A. Christ; Sintia I. Nogueira; Decio Brunoni; Stuar 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 198 KB 👁 3 views

## Abstract We report on a clinical and molecular cytogenetic study of a patient who presents a complex chromosomal rearrangement with two different cell lines. Using high‐resolution GTG banding and fluorescence in situ hybridization (FISH) with several probes, including bacterial artificial chromo