Partial deletion of the long arm of chromosome No. 13
β Scribed by A. Cuschieri; P. Vassallo Agius; J. M. J. C. Scheres
- Publisher
- Springer
- Year
- 1977
- Tongue
- English
- Weight
- 219 KB
- Volume
- 36
- Category
- Article
- ISSN
- 0340-6717
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β¦ Synopsis
A case of partial deletion of chromosome No. 13 identified by G banding as 46, XX, del(13)(q21--ater) is reported in an infant with severe microcephaly, microphthalmos, talipes calcaneovalus, and a single crease on each of the little fingers. A review of other cases of chromosome No. 13 deletion that were identified by banding is presented and the correlation between clinical features and deletion of specific bands is discusses.
π SIMILAR VOLUMES
The case is presented of a girl with the banded karyotype 46,XX,del(13)(q22) and a phenotype of severe mental and growth deficiency, mongoloid slant of palpebral fissures, ptosis, hypertelorism, microcephaly, microstomia, micrognathia, nystagmus, gothic palate, uvula fissa, low-set malformed ears, s