✦ LIBER ✦

Characterization of a de novo unbalanced Y;autosome translocation in a 45,X mentally retarded male and literature review

✍ Scribed by Chih-Ping Chen; Shuan-Pei Lin; Fuu-Jen Tsai; Tzu-Hao Wang; Schu-Rern Chern; Wayseen Wang

Book ID: 116472614
Publisher: Elsevier Science
Year: 2008
Tongue: English
Weight: 337 KB
Volume: 90
Category: Article
ISSN: 1556-5653
DOI: 10.1016/j.fertnstert.2007.11.065

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Primary ovarian failure in a mentally re

Primary ovarian failure in a mentally retarded woman with a de novo unbalanced X;autosome translocation

✍ Chih-Ping Chen; Chyi-Chyang Lin; Yueh-Chun Li; Lie-Jiau Hsieh; Chen-Chi Lee; Way 📂 Article 📅 2006 🏛 Elsevier Science 🌐 English ⚖ 82 KB

De novo unbalanced translocation 2;4 cha

De novo unbalanced translocation 2;4 characterized by metaphase CGH and array CGH in a child with mental retardation and dysmorphic features

✍ A. Debost-Legrand; Y. Capri; L. Gouas; C. Pebrel-Richard; L. Veronese; A. Tchirk 📂 Article 📅 2011 🏛 Elsevier Science 🌐 English ⚖ 367 KB

Characterization of a de novo balanced t

Characterization of a de novo balanced translocation in a patient with moderate mental retardation and dysmorphic features

✍ Marie-Reine Haddad; Cécile Mignon-Ravix; Pierre Cacciagli; André Mégarbané; Laur 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 496 KB

Array-CGH characterization of a de novo

Array-CGH characterization of a de novo t(X;Y)(p22;q11) in a female with short stature and mental retardation

✍ Chiara Palka-Bayard-de-Volo; Stefania De Marco; Valentina Chiavaroli; Melissa Al 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 354 KB

Array CGH characterization of an unbalan

Array CGH characterization of an unbalanced X-autosome translocation associated with Xq27.2–qter deletion, 11q24.3–qter duplication and Xq22.3–q27.1 duplication in a girl with primary amenorrhea and mental retardation

✍ Chen, Chih-Ping; Lin, Shuan-Pei; Chern, Schu-Rern; Kuo, Yu-Ling; Wu, Peih-Shan; 📂 Article 📅 2014 🏛 Elsevier Science 🌐 English ⚖ 612 KB

Partial trisomy 17q22-qter and partial m

Partial trisomy 17q22-qter and partial monosomy Xq27-qter in a girl with a de novo unbalanced translocation due to a postzygotic error: Case report and review of the literature on partial trisomy 17qter

✍ Sarri, C.; Gyftodimou, J.; Avramopoulos, D.; Grigoriadou, M.; Pedersen, W.; Pand 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 501 KB

Partial trisomy 17q22-qter is a rare but well-recognized clinical entity. We present a case of partial trisomy for the long arm of chromosome 17, which was detected in a female infant with severe psychomotor and somatic retardation, Stargardt disease, short limbs, and numerous minor anomalies. Diffe