Cryptic terminal rearrangement of chromosome 22q13.32 detected by FISH in two unrelated patients

Two unrelated patients with cryptic subtelomeric deletions of 22q13.3 were identified using FISH with the commercially available Oncor probe, D22S39. Proband 1 was found to have a derivative chromosome 22 resulting from the unbalanced segregation of a t(1;22)(q44;q13.32) in her mother. Additional FI...

Ausführliche Beschreibung

Bibliographische Detailangaben

Veröffentlicht in:	Journal of medical genetics 1997-08, Vol.34 (8), p.640-644
Hauptverfasser:	Doheny, K F, McDermid, H E, Harum, K, Thomas, G H, Raymond, G V
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Biological and medical sciences Chromosome aberrations Chromosome Banding Chromosome Deletion Chromosome Mapping Chromosomes, Human, Pair 22 Female Humans In Situ Hybridization, Fluorescence Infant Intellectual Disability - genetics Medical genetics Medical sciences
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!