It is reported on a boy of 4 years 9 months with trisomy of the distal part of the short arm of a chromosome 10, due to a balanced 7/10 translocation in the father. Besides multiple minor dysmorphias the patient showed severe mental retardation, small stature, hypotonia, retarded bone age. The high
Family with partial monosomy 10p and trisomy 10p
โ Scribed by Hon, Ellis ;Chapman, Cyril ;Gunn, Tania R.
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 396 KB
- Volume
- 56
- Category
- Article
- ISSN
- 0148-7299
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๐ SIMILAR VOLUMES
Two cases of partial 10p trisomy due to a t(10;20)(p12;p12) in two generations of a family are presented. Analysis of 20 known cases of such aberrations confirmed the opinion of Schleiermacher et al. (1974) that partial trisomy 10p is a distinct clinically recognizable entity. The most important dia
A girl with partial trisomy for the short arm of chromosome 10(p12leads to pter) due to mal chromosome segregation in the father 46,XY,t(7;10)(p22;p12) is described. The major abnormalities in this case are: mottled skin, mid-facial hypoplasia, low percentiles for weight, length, and head circumfere
Since the usefulness of chromosome differential banding techniques has become fully established, several descriptions of chromosome 10 short arm trisomy have been published (Schleiermacher et al., 1974; Roux et al., 1974; Cantu et al., 1975; Grosse et al., 1975; Moric-Petrovic et al., 1976; Turleau