✦ LIBER ✦

Two patients with chromosome 6q terminal deletions with breakpoints at q24.3 and q25.3

✍ Scribed by Meng, Jianguo ;Fujita, Hiroko ;Nagahara, Noboru ;Kashiwai, Akira ;Yoshioka, Yasushi ;Funato, Masahisa

Publisher: John Wiley and Sons
Year: 1992
Tongue: English
Weight: 428 KB
Volume: 43
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320430419

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

We report on 2 patients with de novo terminal deletion of 6q. The first was a 4‐month‐old boy whose karyotype was 46, XY, del(6)(q24.3); the second a 2‐year‐old girl whose karyotype was 46, XX, del(6)(q25.3). The main anomalies in both patients included mental retardation, minor craniofacial and cerebral anomalies, and cardiac defects. The characteristic manifestations were imperforate anus in the first patient, and retinitis proliferans and a triatrial heart in the other. Comparison of clinical findings of our 2 patients with those of 18 previously reported patients with similar phenotypes suggests that terminal deletion of the 6q23 or 6q25 band is critical in producing the main anomalies of del(6q) syndrome. © 1992 Wiley‐Liss, Inc.

📜 SIMILAR VOLUMES

Patient with terminal duplication 3q and

Patient with terminal duplication 3q and terminal deletion 5q: comparison with the 3q duplication syndrome and distal 5q deletion syndrome

✍ Angle, Brad ;Yen, Frank ;Hersh, Joseph H. ;Gowans, Gordon 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 162 KB 👁 2 views

## Abstract Partial duplication of chromosome 3q is a well‐described condition of multiple congenital anomalies and developmental delay that resembles the Brachmann‐de Lange syndrome. Similarly, an emerging phenotype of a distal 5q deletion syndrome has recently been described. The combination of b

Terminal deletion of the long arm of chr

Terminal deletion of the long arm of chromosome 10: A new case with breakpoint in q25.3

✍ Petersen, Birgit; Strassburg, Hans-Michael; Feichtinger, Wolfgang; Kress, Wolfra 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 8 KB 👁 2 views

Since the first patient with partial deletion of the long arm of chromosome 10 was described in 1978, another 23 cases have been reported, with the breakpoint ranging from 10q23.3-26.2. To contribute further to the delineation of the monosomy 10qter syndrome, we describe a female child who, at age 3

Molecular characterization of a patient

Molecular characterization of a patient with an interstitial 1q deletion [del(1)(q24.1q25.3)] and distinctive skeletal abnormalities

✍ Maria Descartes; Julie Zenger Hain; Michael Conklin; Judy Franklin; Fady M. Mikh 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 198 KB 👁 2 views

A child with deletion (14)(q24.3q32.13)

A child with deletion (14)(q24.3q32.13) and auditory neuropathy

✍ Kamilla Schlade-Bartusiak; Georgina Macintyre; Janice Zunich; Diane W. Cox 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 164 KB 👁 1 views

A girl with inverted triplication of chr

A girl with inverted triplication of chromosome 3q25.3 → q29 and multiple congenital anomalies consistent with 3q duplication syndrome

✍ Katrin Õunap; Tiiu Ilus; Oliver Bartsch 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 165 KB 👁 1 views

Familial insertion (3;5)(q25.3;q22.1q31.

Familial insertion (3;5)(q25.3;q22.1q31.3) with deletion or duplication of chromosome region 5q22.1-5q31.3 in ten unbalanced carriers

✍ Arens, Y.H.J.M. ;Engelen, J.J.M. ;Govaerts, L.C.P. ;van Ravenswaay, C.M. ;Loneus 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 187 KB 👁 1 views