𝔖 Bobbio Scriptorium
✦   LIBER   ✦

8q23-q24 duplication—further delineation of a rare chromosomal abnormality

✍ Scribed by Patricia G. Wheeler

Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
181 KB
Volume
152A
Category
Article
ISSN
1552-4825

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

Presented here is a young girl with a rare interstitial duplication of 8q23.3‐q24.21. At birth, unusual facial features led to karyotype analysis with a finding of increased material in 8q. Specific determination of where the extra material came from required comparative genomic hybridization (CGH). The affected girl has dysmorphic facial features including hypertelorism, a wide nasal bridge, retrognathia, hyperopic astigmatism, hirsutism, and developmental delay. The area duplicated includes at least 47 genes including TRPS1 and EXT1. Her features will be described and compared to two similar cases. © 2010 Wiley‐Liss, Inc.

📜 SIMILAR VOLUMES

Novel case of del(17)(q23.1q23.3) furthe
Novel case of del(17)(q23.1q23.3) further highlights a recognizable phenotype involving deletions of chromosome (17)(q21q24)
✍ Mickelson, Elizabeth C. R.; Robinson, Wendy P.; Hrynchak, Monica A.; Lewis, M.E. 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 40 KB 👁 2 views

We report on a girl with a phenotype and developmental profile initially suggestive of Angelman syndrome. Subsequently she was shown to have an interstitial deletion of the long arm of chromosome 17; [del(17)-(q23.1q23.3)], the smallest unique cytogenetic deletion in this region documented to date.

Duplication 14(q24.3q31) in a father and
Duplication 14(q24.3q31) in a father and daughter: Delineation of a possible imprinted region
✍ Robin, Nathaniel H.; Harari-Shacham, Amalia; Schwartz, Stuart; Wolff, Daynna J. 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 16 KB 👁 1 views

A number of clinical reports have described children with a variety of congenital anomalies in association with uniparental disomy (upd) of chromosome 14, suggesting that at least some genes on chromosome 14 are subject to parent of origin, or imprinting, effects. However, little else is known about

Identification and molecular confirmatio
Identification and molecular confirmation of a small chromosome 10q duplication [dir dup(10)(q24.2→q24.3)] inherited from a mother mosaic for the abnormality
✍ Tonk, Vijay ;Schneider, Nancy R. ;Delgado, Mauricio R. ;Mao, Jen-i ;Schultz, Rog 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 21 KB 👁 3 views

We describe a family in which two siblings exhibited developmental delay, reduced muscle tone and mild muscle weakness. Cytogenetic evaluation demonstrated that both children had a tandem duplication of a small portion of the long arm of chromosome 10 [46,XX or XY,dir dup(lO)(q24.2+q24.3)], inherite

Delineation of a duplication map of chro
Delineation of a duplication map of chromosome 3q: A new case confirms the exclusion of 3q25-q26.2 from the duplication 3q syndrome critical region
✍ Rizzu, P.; Haddad, B. R.; Vallcorba, I.; Alonso, A.; Ferro, M. T.; Garcia-Sagred 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 164 KB 👁 2 views

We report on the clinical, cytogenetic, and molecular characterization of a propositus and his mother with a duplication of 3q25-q26, minor anomalies, and mental retardation. The duplication, detected by cytogenetic analysis, was confirmed and delineated by comparative genomic hybridization and fluo