Normal intelligence and premature ovarian failure in an adult female with a 7.6 Mb de novo terminal deletion of chromosome 9p
| Autor: | Christian Netzer, Irene Pütz, Moneef Shoukier, Iris Bartels, Nadine Reintjes |
|---|---|
| Rok vydání: | 2013 |
| Předmět: |
Adult
medicine.medical_specialty medicine.drug_class media_common.quotation_subject Fertility Primary Ovarian Insufficiency Biology 03 medical and health sciences Internal medicine Genetics medicine Humans Genetics (clinical) 030304 developmental biology media_common Comparative Genomic Hybridization 0303 health sciences 030305 genetics & heredity Chromosome Karyotype General Medicine medicine.disease Phenotype Chromosome Banding Premature ovarian failure genomic DNA Endocrinology Female Chromosome Deletion Gonadotropin Chromosomes Human Pair 9 SNP array |
| Zdroj: | European Journal of Medical Genetics. 56:458-462 |
| ISSN: | 1769-7212 |
| DOI: | 10.1016/j.ejmg.2013.06.002 |
| Popis: | 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 peripheral blood revealed a terminal deletion of approximately 7.6 Mb. SNP microarray analyses of the patient and her unaffected parents confirmed the deletion breakpoint and revealed a de novo mutation of paternal origin. This is apparently the first description of an adult woman with a cytogenetically visible terminal deletion of chromosome 9p. The fertility problems observed in this patient complement earlier findings in prepubertal and pubertal 46,XX-girls with 9p deletions, who displayed a phenotype ranging from primary ovarian dysfunction and mild gonadotropin hyperresponses to positive menses. DMRT1 is hemizygous in our patient. We discuss the role of DMRT1 in female gonadal development. |
| Databáze: | OpenAIRE |
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