𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Duplication of 5q15-q23.2: Case report and literature review

✍ Scribed by Jaclyn Douyard; Pamela Hawley; Meira Shaham; Virginia Kimonis

Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
185 KB
Volume
76
Category
Article
ISSN
1542-0752

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

BACKGROUND

Pure partial trisomy of chromosome 5q is rare and cases have ranged over the entire region, making it difficult to describe a good phenotypic correlation to the cytogenetic duplication.

CASE

We present a 4.5‐year‐old girl with a de novo direct duplication of chromosome 5q15‐q23.2. She has moderate developmental delay with lack of speech, microcephaly, and subtle dysmorphic features including prominent forehead, bulbous nose, epicanthic folds, protruding tongue, and slightly posteriorly‐rotated ears.

CONCLUSIONS

A comparison is made with other similar duplication cases reported in the literature and a general description of a proximal 5q duplication phenotype is given, with lack of speech as the principal feature. Birth Defects Research (Part A), 2006. Β© 2006 Wiley‐Liss, Inc.

πŸ“œ SIMILAR VOLUMES

Trisomy 20q caused by interstitial dupli
Trisomy 20q caused by interstitial duplication 20q13.2: Clinical report and literature review
✍ Pierre Blanc; Laetitia Gouas; Christine Francannet; Michel Giollant; Philippe Va πŸ“‚ Article πŸ“… 2008 πŸ› John Wiley and Sons 🌐 English βš– 117 KB

## Abstract We report on a 3‐year‐old boy with moderate developmental delay, abnormal craniofacial features and ventricular septal defect resulting from trisomy of the long arm of chromosome 20. The cytogenetic defect consists of a de novo isolated interstitial duplication in distal 20q [dup(20)(q1

Duplication of distal 19q: Clinical repo
Duplication of distal 19q: Clinical report and review
✍ Boyd, Ellen ;Grass, Frank S. ;Parke, James C. ;Knutson, Kam ;Stevenson, Roger E. πŸ“‚ Article πŸ“… 1992 πŸ› John Wiley and Sons 🌐 English βš– 404 KB πŸ‘ 1 views

## Abstract We report on a 20‐month‐old boy with duplication of the distal part of 19q. His karyotype is 46, XY, βˆ’22, + der(22), t(19;22) (q13.3; p11.2)mat. The propositus has multiple minor anomalies, congenital heart defects, seizures, profound psychomotor retardation, and growth impairment. Thes

Dup(lq)(q42β†’qter) syndrome: Case report
Dup(lq)(q42β†’qter) syndrome: Case report and review of literature
✍ Kennerknecht, Ingo ;Barbi, Gotthold ;Rodens, Klaus πŸ“‚ Article πŸ“… 1993 πŸ› John Wiley and Sons 🌐 English βš– 347 KB πŸ‘ 1 views

We report on a patient with primordial growth retardation, mental retardation, and minor anomalies (triangular face, open sagittal suture, frontal bossing, telecanthus, upturned nose, micrognathia, and small mouth with downturned corners). The diagnosis of Russell-Silver syndrome (RSS) had been cons