Maternal 21-hydroxylase deficiency and uniparental isodisomy of chromosome 6 and X results in a child with 21-hydroxylase deficiency and Klinefelter syndrome.
Parker
Elizabeth A
EA
National Institutes of Health, Developmental Endocrinology Branch, NICHD, Bethesda, Maryland, USA.
Hovanes
Karine
K
Germak
John
J
Porter
Forbes
F
Merke
Deborah P
DP
D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics*; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000235:genetics*; D008297:Male; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D013255:Steroid 21-Hydroxylase / Q000235:genetics*; D024182:Uniparental Disomy / Q000235:genetics*
D013255:Steroid 21-Hydroxylase