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 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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Bloom Syndrome / enzymology
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Bloom Syndrome / genetics*
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Female
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Humans
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Hypolipoproteinemias / genetics*
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Lecithin Cholesterol Acyltransferase Deficiency / genetics*
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Male
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Phosphatidylcholine-Sterol O-Acyltransferase / genetics
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Sister Chromatid Exchange
Substances
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Phosphatidylcholine-Sterol O-Acyltransferase