Partial monosomy 10q and partial trisomy 9q with anal atresia due to maternal translocation: t(9;10)(q32;q26)
| Autor: | Keiichi Hanaki, Ikuo Nagata, Jun Murakami, Nagao Kodama, Kazuo Shiraki, Hiroshi Sawada, Nobuaki Kaibara, Hirofumi Urashima, Toshinori Tsukuda, Norio Shimizu, Tomoharu Kaneda, Takehiko Ohzeki |
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| Rok vydání: | 1996 |
| Předmět: |
Male
medicine.medical_specialty Monosomy Isochromosome Anal Canal Chromosome 9 Chromosomal translocation Chromosome Disorders Trisomy Biology Translocation Genetic Genetics medicine Humans Abnormalities Multiple Genetics (clinical) Gynecology Chromosome Aberrations Chromosomes Human Pair 10 Infant Newborn Karyotype medicine.disease Molecular biology Anal atresia Chromosome Deletion Imperforate anus Chromosomes Human Pair 9 |
| Zdroj: | Clinical genetics. 50(4) |
| ISSN: | 0009-9163 |
| Popis: | We report a case of a boy with a partial deletion of the long arm of chromosome 10 and partial duplication of the long arm of chromosome 9 due to maternal balanced translocation. The karyotype was 46,XY,-10, +der(10)t(9;10)(q32;q26)mat. Our patient had imperforate anus and as this finding is usually not observed in association with trisomy 9q, it suggests that partial monosomy of the long arm of chromosome 10 might be associated with anogenital anomalies. |
| Databáze: | OpenAIRE |
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