✦ LIBER ✦

15q Duplication associated with autism in a multiplex family with a familial cryptic translocation t(14;15)(q11.2;q13.3) detected using array-CGH

✍ Scribed by M Koochek; C Harvard; MJ Hildebrand; M Van Allen; H Wingert; E Mickelson; JJA Holden; E Rajcan-Separovic; MES Lewis

Book ID: 110888114
Publisher: John Wiley and Sons
Year: 2006
Tongue: English
Weight: 714 KB
Volume: 69
Category: Article
ISSN: 0009-9163
DOI: 10.1111/j.1399-0004.2005.00560.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Combined 22q11.1-q11.21 deletion with 15

Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy

✍ Emmanouil Manolakos; Catherine Sarri; Annalisa Vetro; Konstantinos Kefalas; Elen 📂 Article 📅 2011 🏛 BioMed Central 🌐 English ⚖ 765 KB

Cryptic duplication and deletion of 9q34

Cryptic duplication and deletion of 9q34.3 → qter in a family with a t(9;22)(q34.3;p11.2)

✍ Travis M. Sanger; Ann Haskins Olney; Dianna Zaleski; Diane Pickering; Marilu Nel 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 186 KB 👁 2 views

Multiplex FISH telomere integrity assay

Multiplex FISH telomere integrity assay identifies an unbalanced cryptic translocation der(5)t(3;5)(q27;p15.3) in a family with three mentally retarded individuals

✍ Martin Granzow; Susanne Popp; Monika Keller; Heidi Holtgreve-Grez; Michaela Brou 📂 Article 📅 2000 🏛 Springer 🌐 English ⚖ 115 KB

Characterization of breakpoints in theGA

Characterization of breakpoints in theGABRG3 andTSPY genes in a family with a t(Y;15)(p11.2;q12)

✍ Gole, Leena ;Crolla, John A. ;Thomas, Simon N. ;Jacobs, Patricia A. ;Dennis, Nic 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 64 KB

## Abstract We report the clinical, cytogenetic, and molecular findings in a family in which a t(Y;15)(p11.2;q12) is segregating. The Y chromosome breakpoint disrupts the DYZ5 sequence containing the __TSPY__ genes that are exclusively expressed in the testes while the chromosome 15 breakpoint is w

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

Maternal disomy and Prader-Willi syndrom

Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2)

✍ Park, Jonathan P.; Moeschler, John B.; Hani, Valerie H.; Hawk, Arnold B.; Bellon 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 28 KB 👁 3 views

Maternal uniparental disomy (UPD) for chromosome 15 is responsible for an estimated 30% of cases of Prader-Willi syndrome (PWS). We report on an unusual case of maternal disomy 15 in PWS that is most consistent with adjacent-1 segregation of a paternal t(3;15)(p25;q11.2) with simultaneous maternal m