English
 
Help Privacy Policy Disclaimer
  Advanced SearchBrowse

Item

ITEM ACTIONSEXPORT
  Molecular cytogenetic analysis of a de novo interstitial deletion 5q23.3q31.2 and its phenotypic consequences

Tzschach, A., Krause-Plonka, I., Menzel, C., Kalscheuer, V. M., Toennies, H., Scherthan, H., et al. (2006). Molecular cytogenetic analysis of a de novo interstitial deletion 5q23.3q31.2 and its phenotypic consequences. American Journal of Medical Genetics, 140(5), 496-502. doi:10.1002/ajmg.a.31105.

Item is

Basic

show hide
Genre: Journal Article
Alternative Title : Am. J. Med. Genet.

Files

show Files
hide Files
:
fulltext_ID=112397449&PLACEBO=IE.pdf (Any fulltext), 181KB
 
File Permalink:
-
Name:
fulltext_ID=112397449&PLACEBO=IE.pdf
Description:
-
OA-Status:
Visibility:
Restricted (Max Planck Institute for Molecular Genetics, MBMG; )
MIME-Type / Checksum:
application/pdf
Technical Metadata:
Copyright Date:
-
Copyright Info:
eDoc_access: MPG
License:
-

Locators

show

Creators

show
hide
 Creators:
Tzschach, Andreas1, Author           
Krause-Plonka, Ines, Author
Menzel, Corinna2, Author
Kalscheuer, Vera M.3, Author           
Toennies, Holger, Author
Scherthan, Harry1, Author           
Knoblauch, Andreas, Author
Radke, Michael, Author
Ropes, Hans-Hilger2, Author
Hoeltzenbein, Maria2, Author
Affiliations:
1Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
2Max Planck Society, ou_persistent13              
3Chromosome Rearrangements and Disease (Vera Kalscheuer), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479642              

Content

show
hide
Free keywords: -
 Abstract: We report a -year-old boy with a constitutional interstitial deletion of 5q,46,XY,del(5)(q23.3q31.2) de novo. Clinical manifestations in this patient included failure to thrive, psychomotor retardation, mild facial dysmorphic features, and long and slender fingers and toes. The precise location and extent (9.5 Mb) of the deletion was determined by fluorescence in situ hybridization (FISH) using 19 YAC and BAC clones. Comparison of the present patient with six other patients with deletions of chromosomal bands 5q22-5q31 allowed further delineation of a constitutional del5q22q31 syndrome. The main features of this syndrome are psychomotor retardation, failure to thrive, hypotonia, hypoplastic muscles, cleft or high arched palate, low-set and dysplastic ears, flat nasal bridge, downslanting palpebral fissures, hypertelorism, anteverted nostrils, and micro- and/or retrognathia

Details

show
hide
Language(s): eng - English
 Dates: 2006-02-06
 Publication Status: Issued
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Identifiers: eDoc: 308877
DOI: 10.1002/ajmg.a.31105
 Degree: -

Event

show

Legal Case

show

Project information

show

Source 1

show
hide
Title: American Journal of Medical Genetics
  Alternative Title : Am. J. Med. Genet.
Source Genre: Journal
 Creator(s):
Affiliations:
Publ. Info: -
Pages: - Volume / Issue: 140 (5) Sequence Number: - Start / End Page: 496 - 502 Identifier: ISSN: 1096-8628