Maternally transmitted extra ring(21) chromosome in a boy with Down's syndrome
β Scribed by Takako Matsubara; Yasuo Nakagome; Nobuaki Ogasawara; Shigehiro Oka; Tsunehiro Yokochi
- Publisher
- Springer
- Year
- 1982
- Tongue
- English
- Weight
- 399 KB
- Volume
- 60
- Category
- Article
- ISSN
- 0340-6717
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An 11-year-old girl with severe psychomotor retardation and other congenital anomalies characteristic of Down's and G deletion I syndromes, was confirmed to be a chromosome 21 ring carrier by R- and G-banding techniques. The dynamics of the ring evolution resulting in a population of complex unstabl
## Abstract Ring chromosome 21 syndrome is a rare condition with a wellβcharacterized phenotype. Affected individuals have recognizable dysmorphic features, developmental delays, growth retardation, and a predisposition for congenital malformations involving the neurologic, craniofacial, digestive,