A constitutional 5q23 deletion

A 14 month old girl was found to have a deletion of the whole of band 5q23. By comparing 19 other cases monosomic for a part of the 5q13-q31 segment, the constitutional 5q interstitial deletions fall into two groups: adult patients with Gardner-like symptoms and mental retardation associated with de...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Journal of medical genetics 1990-04, Vol.27 (4), p.267-268
Hauptverfasser:	Rivera, H, Simi, P, Rossi, S, Pardelli, L, Di Paolo, M C
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences chromosome 5 Chromosome aberrations Chromosome Deletion Chromosomes, Human, Pair 5 Female Gardner Syndrome - genetics Humans Infant Intellectual Disability Medical genetics Medical sciences
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Beschreibung
Zusammenfassung:	A 14 month old girl was found to have a deletion of the whole of band 5q23. By comparing 19 other cases monosomic for a part of the 5q13-q31 segment, the constitutional 5q interstitial deletions fall into two groups: adult patients with Gardner-like symptoms and mental retardation associated with deletion 5q21-q22, and patients (mostly children) with unspecific signs and symptoms and different deletions.
ISSN:	0022-2593 1468-6244 1468-6244
DOI:	10.1136/jmg.27.4.267