Chromosomal studies of two brothers with mental retardation and dysmorphic features showed a 13p+ chromosome. The same 13p+ chromosome was found in the father and the other sib, who were both phenotypically normal. The relationship between the physical abnormalities and the chromosomal findings are
Variant chromosome 3 (inv3) in normal newborns and their parents, and in children with mental retardation
โ Scribed by A. -V. Mikelsaar; Tiiu Ilus; Sirje Kivi
- Publisher
- Springer
- Year
- 1978
- Tongue
- English
- Weight
- 210 KB
- Volume
- 41
- Category
- Article
- ISSN
- 0340-6717
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โฆ Synopsis
The chromosomes of 102 normal newborn babies (51 boys and 51 girls) born at term, their parents, and 45 nonrelated children with mental retardation at the level of imbecility were investigated by fluorescence microscopy using propyl quinacrine mustard. In each of the 11 families, one of the parents had a variant chromosome 3 that was interpreted as resulting from a pericentric inversion of the brilliant band (or C band) only (inv3). In four cases inv3 was transmitted to the child. The frequency of inv3 in newborn boys and girls was 2 and 6% respectively, and in adult men and women 5 and 6% respectively. In children with mental retardation of unknown etiology the inv3 was detected in five cases (11.1%). This difference from normal persons was not significant.
๐ SIMILAR VOLUMES
FIG. 1. Patient aged 11 years. Note high forehead, frontal upsweep, upslanting palpebral fissures, and small nose and mouth.