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Hypoplastic left heart in a patient with 45,X/46,XX/47,XXX mosaicism

Hypoplastic left heart in a patient with 45,X/46,XX/47,XXX mosaicism Recurrence risks for primary congenital heart lesions are well defined. An infant with hypoplastic left heart syndrome is observed to have a short neck with a full skin fold on the right side, unilateral single palmar crease, and whorls on all ten fingers. She was found to have the Ullrich‐Turner syndrome with mosaicism 45,X/46,XX/47,XXX. We believe the cardiac malformation was secondary to her aneuploidy. This could have important implications for prediction of recurrence risks to the parents. Chromosomal tests may be indicated for infants were severe congenital cardiac lesions, based on subtle clinical findings. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Medical Genetics Part A Wiley

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References (11)

Publisher
Wiley
Copyright
Copyright © 1978 Wiley Subscription Services, Inc., A Wiley Company
ISSN
1552-4825
eISSN
1552-4833
DOI
10.1002/ajmg.1320020404
pmid
263448
Publisher site
See Article on Publisher Site

Abstract

Recurrence risks for primary congenital heart lesions are well defined. An infant with hypoplastic left heart syndrome is observed to have a short neck with a full skin fold on the right side, unilateral single palmar crease, and whorls on all ten fingers. She was found to have the Ullrich‐Turner syndrome with mosaicism 45,X/46,XX/47,XXX. We believe the cardiac malformation was secondary to her aneuploidy. This could have important implications for prediction of recurrence risks to the parents. Chromosomal tests may be indicated for infants were severe congenital cardiac lesions, based on subtle clinical findings.

Journal

American Journal of Medical Genetics Part AWiley

Published: Jan 1, 1978

Keywords: ; ; ;

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