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Inheritance of hypoplastic left heart syndrome (HLHS): further observations.

作者信息

Brownell L G, Shokeir M H

出版信息

Clin Genet. 1976 Feb;9(2):245-9. doi: 10.1111/j.1399-0004.1976.tb01571.x.

DOI:10.1111/j.1399-0004.1976.tb01571.x
PMID:1248182
Abstract

From a survey of newborn infants using truncate ascertainment of families through affected offspring, 64 cases of hypoplastic left heart syndrome (HLHS) were found. Pedigree information was obtained from 42 families. The incidence of HLHS, based on 64 affected infants, was 36.5/100,000 births. The incidence of HLHS with aortic and/or mitral atresia was 25.1/100,000 births. The recurrence among later siblings was about 2 %. Autosomal recessive hypothesis of transmission of this disorder was not supported. Using Edwards' formula, the observed recurrence among later siblings was compatible with polygenic inheritance.

摘要

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Changing Epidemiology of Hypoplastic Left Heart Syndrome: Results of a National Swedish Cohort Study.左心发育不全综合征的流行病学变化:一项全国性瑞典队列研究的结果。
J Am Heart Assoc. 2019 Jan 22;8(2):e010893. doi: 10.1161/JAHA.118.010893.
2
Separation of the PROX1 gene from upstream conserved elements in a complex inversion/translocation patient with hypoplastic left heart.复杂倒位/易位患者存在左心发育不良,从上游保守元件中分离 PROX1 基因。
Eur J Hum Genet. 2009 Nov;17(11):1423-31. doi: 10.1038/ejhg.2009.91. Epub 2009 May 27.
3
Hypoplastic left heart syndrome.
左心发育不全综合征
Orphanet J Rare Dis. 2007 May 11;2:23. doi: 10.1186/1750-1172-2-23.