A case of partial trisomy 2p (region 2p21→2pter) derived from a maternal t(2;15)(p21;q26)
| Autor: | Akira Tonomura, Tetsuya Iwatsubo, Kunikazu Kishi, Kozo Nishimura, Yukio Matsutani |
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| Rok vydání: | 1980 |
| Předmět: |
Genetics
Microcephaly Triangular face Chromosomes Human 1-3 Infant Newborn Chromosome Trisomy Karyotype Chromosomal translocation Anatomy Biology medicine.disease Translocation Genetic Hydrocephalus Karyotyping Gene duplication medicine Humans Abnormalities Multiple Female Hypertelorism medicine.symptom Chromosomes Human 13-15 Genetics (clinical) |
| Zdroj: | Japanese journal of human genetics. 25:47-53 |
| ISSN: | 0021-5074 |
| Popis: | A further case of partial trisomy 2p inherited from a maternal balanced translocation with a karyotype of 46,XX,t(2;15)(p21;q26) is reported. The female patient had an unbalanced karyotype with duplication of the distal part of the short arm of chromosome 2 (region 2p21→2pter). On the basis of the cytogenetic finding, clinical features of this patient were compared with those of the reported two cases with the similar duplication of region 2p21→2pter. The clinical features common to the three cases were hypertelorism, triangular face, large abnormal ears, congenital heart defect and long fingers, but microcephaly, prominent nasal bridge and long toes noted in the reported cases were replaced with hydrocephalus, wide, flat nasal bridge and short toes in the present case. |
| Databáze: | OpenAIRE |
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