FISH-mapping of a 100-kb terminal 22q13 deletion.

Details

Serval ID
serval:BIB_DAD8CC631571
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Title
FISH-mapping of a 100-kb terminal 22q13 deletion.
Journal
Human Genetics
Author(s)
Anderlid B.M., Schoumans J., Annerén G., Tapia-Paez I., Dumanski J., Blennow E., Nordenskjöld M.
ISSN
0340-6717 (Print)
ISSN-L
0340-6717
Publication state
Published
Issued date
2002
Volume
110
Number
5
Pages
439-443
Language
english
Notes
Publication types: Case Reports ; Journal Article ; Research Support, Non-U.S. Gov'tPublication Status: ppublish.
Abstract
Both cytogenetically visible and cryptic deletions of the terminal region of chromosome 22q are associated with a clinical phenotype including mental retardation, delay in expressive speech development, hypotonia, normal to accelerated growth and minor facial dysmorphic features. The genes responsible for the development of the phenotype have not yet been identified, but a distal localization is probable, since the cytogenetically visible and the cryptic deletions show a similar pattern of symptoms. We report a 33-year-old woman with a submicroscopic 22q13 deletion, mild mental retardation, speech delay, autistic symptoms and mild facial dysmorphic features. The deletion was mapped by FISH using cosmid probes from terminal 22q13, and the size of the deletion was estimated to be 100 kb. Three genes are affected by the deletion in this patient. ACR and RABL2B are deleted and proSAP2 is disrupted. This observation, together with recently published data, supports the notion that proSAP2 is the most important contributor to the 22q13 deletion phenotype.
Keywords
Abnormalities, Multiple/genetics, Abnormalities, Multiple/physiopathology, Adult, Child, Chromosome Deletion, Chromosomes, Human, Pair 22/genetics, Female, Humans, In Situ Hybridization, Fluorescence, Infant, Phenotype, Physical Chromosome Mapping
Pubmed
Web of science
Create date
17/09/2011 11:00
Last modification date
20/08/2019 16:59
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