✦ LIBER ✦

Segregation of a t(1;3) translocation in multiple affected family members with both types of adjacent-1 segregants

✍ Scribed by Kozma, Chahira ;Slavotinek, Anne M. ;Meck, Jeanne M.

Publisher: John Wiley and Sons
Year: 2003
Tongue: English
Weight: 358 KB
Volume: 124A
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.a.20332

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Two sibs with different phenotypes due t

Two sibs with different phenotypes due to adjacent-1 segregation of a subtle translocation t(4;5)(p16.3;p15.3) mat

✍ Qumsiyeh, Mazin B. ;Stevens, Cathy A. 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 495 KB

High-resolution chromosome banding and in situ hybridization with combined cosmid and alphoid sequence probes were used to delineate a very small reciprocal translocation in a mother and her two children. The first child has a 46,XX,der(4)t(4;5)(pl6.3;p15.3)mat and thus has a deletion of 4p16.Gpter

Unusual mosaic karyotype resulting from

Unusual mosaic karyotype resulting from adjacent 1 segregation of t(11;22): Importance of performing skin fibroblast karyotype in patients with unexplained multiple congenital anomalies

✍ Kulharya, Anita S. ;Lovell, Carolyn Mills ;Flannery, David B. 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 73 KB

## Abstract We report a patient with a mosaic karyotype resulting from an adjacent 1 segregation of the familial autosomal translocation (11;22). The karyotype seen in fibroblast is 46,XY,der(22)t(11;22)(q23.3;q11.2)/46,XY. No evidence of the abnormal cell line was seen in the cultures obtained fro

Bilateral renal agenesis and fetal ascit

Bilateral renal agenesis and fetal ascites in association with partial trisomy 13 and partial trisomy 16 due to a 3:1 segregation of maternal reciprocal translocation t(13;16)(q12.3; p13.2)

✍ Chih-Ping Chen; Schu-Rern Chern; Chen-Chi Lee; Dai-Dyi Town; Wen-Lin Chen; Wayse 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 185 KB 👁 2 views

A female fetus with bilateral renal agenesis and fetal ascites was found to have partial trisomy 13 (pter-q12.3) and partial trisomy 16 (p13.2-pter), 47,XX,+der(13)t(13;16)(q12.3; p13.2)mat. The chromosomal aberration was due to a 3:1 segregation with tertiary trisomy transmitted from a maternal rec

Paternal balanced reciprocal translocati

Paternal balanced reciprocal translocation t(9;22)(q34.3;q11.2) resulting in an lnfant with features of the 9q subtelomere and the 22q11 deletion syndromes due to 3:1 meiotic segregation and tertiary monosomy

✍ Robin R. McGoey; Yves Lacassie 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 183 KB 👁 1 views