Hereditary lecithin-cholesterol acyltransferase deficiency and bloom syndrome in the same individual
- 1 March 1983
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 14 (3) , 479-485
- https://doi.org/10.1002/ajmg.1320140312
Abstract
A couple who were first cousins had three children: an older son with Bloom syndrome (BLS) and homozygous lecithin‐cholesterol acyltransferase (LCAT) deficiency; the second child (a son) and the parents are LCAT deficiency heterozygotes; and the youngest child (a daughter), is homozygous for LCAT deficiency. The use of genetic markers gave no evidence of linkage of BLS and LCAT loci.Keywords
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