title: Maternal 21-hydroxylase deficiency and uniparental isodisomy of chromosome 6 and X results in a child with 21-hydroxylase deficiency and Klinefelter syndrome.
authors.affiliation: National Institutes of Health, Developmental Endocrinology Branch, NICHD, Bethesda, Maryland, USA.
authors.forename: Elizabeth A
authors.initials: EA
authors.lastname: Parker
authors.forename: Karine
authors.initials: K
authors.lastname: Hovanes
authors.forename: John
authors.initials: J
authors.lastname: Germak
authors.forename: Forbes
authors.initials: F
authors.lastname: Porter
authors.forename: Deborah P
authors.initials: DP
authors.lastname: Merke
mesh_terms: 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*
chemical_list: D013255:Steroid 21-Hydroxylase