Ring chromosome 7 in a man with multiple congenital anomalies and mental retardation

Ring chromosome 7 in a man with multiple congenital anomalies and mental retardation

A 39 year old male with multiple dysmorphic features was found to have an unstable ring chromosome 7. Clinical findings are presented and compared with the other five reported cases of ring chromosome 7. The main characteristics found in patients with this chromosome constitution are prenatal onset...

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Veröffentlicht in:Journal of medical genetics 1990-07, Vol.27 (7), p.462-464
Hauptverfasser: Koiffmann, C P, Diament, A, de Souza, D H, Wajntal, A
Format: Artikel
Sprache:eng
Schlagworte:
Abnormalities, Multiple - diagnosis
Abnormalities, Multiple - genetics
Adult
Biological and medical sciences
Chromosome Aberrations
Chromosome Banding
Chromosomes, Human, Pair 7
Humans
Intellectual Disability
Male
Medical genetics
Medical sciences
mental retardation
Ring Chromosomes
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Beschreibung
Zusammenfassung:A 39 year old male with multiple dysmorphic features was found to have an unstable ring chromosome 7. Clinical findings are presented and compared with the other five reported cases of ring chromosome 7. The main characteristics found in patients with this chromosome constitution are prenatal onset growth deficiency, bone anomalies, pigmentary or vascular skin changes, and ocular and genital anomalies.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.27.7.462