Excess of mental retardation and/or congenital malformation in reciprocal translocations in man
✍ Scribed by J. P. Fryns; A. Kleczkowska; E. Kubień; H. Berghe
- Publisher
- Springer
- Year
- 1986
- Tongue
- English
- Weight
- 693 KB
- Volume
- 72
- Category
- Article
- ISSN
- 0340-6717
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
16 (41%) out of 39 individuals referred by physicians because of sexual anomalies showed abnormal karyotypes; the corresponding figure for those investigated due to suspected autosomal aberrations was 37 out of 104 (36%). A special survey was also conducted among 51 mentally defective children with
We studied a patient with a sporadic mental retardation/multiple congenital anomalies syndrome. Chromosome analysis showed a 46,XX, inv(9)(p 11;q13) karyotype in all lymphocytes. Fibroblasts from two separate skin biopsies revealed a mosaic karyotype. Some 22.5% of fibroblasts had a karyotype like t