Maternal 21-hydroxylase deficiency and uniparental isodisomy of chromosome 6 and X results in a child with 21-hydroxylase deficiency and Klinefelter syndrome

Am J Med Genet A. 2006 Oct 15;140(20):2236-40. doi: 10.1002/ajmg.a.31408.

Authors

Elizabeth A Parker¹, Karine Hovanes, John Germak, Forbes Porter, Deborah P Merke

Affiliation

¹ National Institutes of Health, Developmental Endocrinology Branch, NICHD, Bethesda, Maryland, USA.

PMID: 16906568
DOI: 10.1002/ajmg.a.31408

No abstract available

MeSH terms

Adrenal Hyperplasia, Congenital / genetics*
Chromosomes, Human, Pair 6 / genetics*
Chromosomes, Human, X / genetics*
Humans
Karyotyping
Klinefelter Syndrome / genetics*
Male
Pedigree
Polymorphism, Restriction Fragment Length
Steroid 21-Hydroxylase / genetics*
Uniparental Disomy / genetics*

Substances

Steroid 21-Hydroxylase