✦ LIBER ✦

Interstitial deletion of 6q21-q23 associated with split hand

✍ Scribed by Tsukahara, Masato; Yoneda, Junko; Azuma, Reiko; Nakashima, Kanae; Kito, Nobuyuki; Ouchi, Kazunobu; Kanehara, Yoji

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 255 KB
Volume: 69
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19970331)69:3<268::aid-ajmg10>3.0.co;2-p

No coin nor oath required. For personal study only.

✦ Synopsis

We report on a 7-month-old boy with interstitial deletion of 6q21-q23 and split-hand defect. He died at 7 months. This is the fifth patient with distal limb anomaly associated with a rearrangement of 6q21 region, and supports previous suggestions that there may be candidate gene(s) for distal limb development in the 6q21 region.

📜 SIMILAR VOLUMES

Interstitial deletion of 13q associated

Interstitial deletion of 13q associated with polymicrogyria

✍ Jillene M. Kogan; John C. Egelhoff; Howard M. Saal 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 234 KB 👁 2 views

Multiple craniofacial anomalies associat

Multiple craniofacial anomalies associated with an interstitial deletion of chromosome 1(q21->q25)

✍ Leichtman, Lawrence G. ;Strum, Daniel ;Brothman, Arthur R. 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 368 KB 👁 2 views

Interstitial deletion 8q11.2-q13 with co

Interstitial deletion 8q11.2-q13 with congenital anomalies of CHARGE association

✍ Cammon B. Arrington; Brett C. Cowley; Daniel R. Nightingale; Holly Zhou; Arthur 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 159 KB 👁 1 views

## Abstract Specific genetic loci responsible for CHARGE association are currently unknown. Herein, we describe a neonate with clinical manifestations consistent with CHARGE association who has a de novo interstitial deletion involving bands 8q11.2 to 8q13. Genetic mapping and genomic microarray te

Case of interstitial 12q deletion in ass

Case of interstitial 12q deletion in association with Wilms tumor

✍ Rapley, Elizabeth A. ;Hargrave, Darren ;Persinguhe, Nina ;Barfoot, Rita ;Moore, 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 93 KB 👁 2 views

Ectro-amelia syndrome associated with an

Ectro-amelia syndrome associated with an interstitial deletion of 7q

✍ Morey, Martha A. ;Higgins, Rodney R. 📂 Article 📅 1990 🏛 John Wiley and Sons 🌐 English ⚖ 364 KB 👁 2 views

Interstitial deletion of the long arm of

Interstitial deletion of the long arm of chromosome 4 [del(4)(q21.22q23)] and a liver tumor

✍ Suwa, Kiyotaka; Momoi, Mariko Y.; Yamagata, Takanori; Mori, Yuuko 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 12 KB 👁 2 views

We report on a boy with proximal interstitial deletion of chromosome 4, del(4)(q21. 22q23). The patient was born at term with a low birth weight, flat nasal bridge, micrognathia, wide-spaced nipples, clinodactyly of fifth fingers, overlapping fingers, postaxial polydactyly of the right foot, micrope