Absent right atrioventricular connection and double-inlet ventricle due to an unbalanced familial 8:13 chromosome translocation: a cautionary tale

A two-year-old child who had had palliative surgery as a neonate for an absent right atrioventricular connection and double-inlet ventricle was shown to be developmentally retarded. Trisomy for the short arm of chromosome 8 was demonstrated, resulting from a familial 8:13 translocation, with a high...

Ausführliche Beschreibung

Bibliographische Detailangaben

Veröffentlicht in:	Pediatric cardiology 1984-01, Vol.5 (1), p.55-59
Hauptverfasser:	Burn, J, Baraitser, M, Hughes, D T, Saldana-Garcia, P, Taylor, J F
Format:	Artikel
Sprache:	eng
Schlagworte:	Cardiac Catheterization Child, Preschool Chromosomes, Human, 13-15 Chromosomes, Human, 6-12 and X Female Heart Atria - abnormalities Heart Defects, Congenital - genetics Heart Ventricles - abnormalities Humans Infant, Newborn Noonan Syndrome - pathology Translocation, Genetic Trisomy
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!