Normal intelligence and premature ovarian failure in an adult female with a 7.6 Mb de-novo terminal deletion of chromosome 9p.
Eur J Med Genet. 2013 Jun 25
Bartels I, Pütz I, Reintjes N, Netzer C, Shoukier M.
Institute of Human Genetics, University Medical Center Goettingen, Germany.
Distal deletion 9p is associated with gonadal dysfunction in XY individuals. Little is known about the gonadal function and fertility of XX females with this condition. We report on an affected 31-year-old infertile woman presenting with premature ovarian failure, mild dysmorphic features, a history of mild developmental delay and an otherwise normal female phenotype. Cytogenetic analysis showed a deletion 9p with the karyotype 46,XX,del(9)(p23∼24) in lymphocytes. The subsequent oligonucleotide array-based CGH analysis with genomic DNA from …continua a leggere!