Distal deletion of the short arm of chromosome No. 10: A case report

Distal deletion of the short arm of chromosome No. 10: A case report

Distal deletion of the short arm of chromosome No. 10 in a psychomotor retarded and malformed boy is described. His karyotype was 46,XY,del(10)(p13), i.e., partial monosomic for a distal segment of the short arm of No. 10. The clinical features included microcephaly, hypertelorism, depressed nasal b...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Jinrui idengaku zasshi. Japanese journal of human genetics 1983-12, Vol.28 (4), p.291-296
Hauptverfasser: Oka, S, Nakano, H, Yokochi, T, Ueda, K, Saito, A
Format: Artikel
Sprache:eng
Schlagworte:
Abnormalities, Multiple - genetics
Child, Preschool
Chromosome Banding
Chromosome Deletion
Chromosomes, Human, 6-12 and X
Humans
Karyotyping
Male
Psychomotor Disorders - genetics
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
Beschreibung
Zusammenfassung:Distal deletion of the short arm of chromosome No. 10 in a psychomotor retarded and malformed boy is described. His karyotype was 46,XY,del(10)(p13), i.e., partial monosomic for a distal segment of the short arm of No. 10. The clinical features included microcephaly, hypertelorism, depressed nasal bridge, bilateral epicanthus, small palpebral fissures, low set ears with small auricles, wide-spaced nipples and congenital heart disease.
ISSN:1434-5161
0021-5074
0916-8478
1435-232X
DOI:10.1007/BF01876793