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

Abstract:

: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 risk of recurrence. Although the specific features of this case are unique, it illustrates the importance of chromosome analysis in any dysmorphic infant whose heart defect places prolonged survival in doubt.

journal_name

Pediatr Cardiol

journal_title

Pediatric cardiology

authors

Burn J,Baraitser M,Hughes DT,Saldana-Garcia P,Taylor JF

doi

10.1007/BF02306750

subject

Has Abstract

pub_date

1984-01-01 00:00:00

pages

55-9

issue

1

eissn

0172-0643

issn

1432-1971

journal_volume

5

pub_type

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