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

Détails

ID Serval
serval:BIB_DAD8CC631571
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
FISH-mapping of a 100-kb terminal 22q13 deletion.
Périodique
Human Genetics
Auteur⸱e⸱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
Statut éditorial
Publié
Date de publication
2002
Volume
110
Numéro
5
Pages
439-443
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article ; Research Support, Non-U.S. Gov'tPublication Status: ppublish.
Résumé
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.
Mots-clé
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
Création de la notice
17/09/2011 10:00
Dernière modification de la notice
20/08/2019 15:59
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