Trisomy 4p due to a paternal t(4p-;16p+) translocation
โ Scribed by Th. Bauknecht; F. Betteken; W. Vogel
- Book ID
- 104700783
- Publisher
- Springer
- Year
- 1976
- Tongue
- English
- Weight
- 453 KB
- Volume
- 34
- Category
- Article
- ISSN
- 0340-6717
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โฆ Synopsis
A patient is described carrying a duplication 4p12 leads to pter due to a paternal translocation: 46,XY,t(4;16) (p12;p13). Involvement of chromosome No. 16 and the heterogeneity of the clinical picture in cases with dup (4p) are discussed.
๐ SIMILAR VOLUMES
A 16-year-old girl with trisomy 9p is described. She had a short stature, severe mental retardation and the following abnormal clinical findings: peculiar face with hypertelorism, downward slanting palpebral fissures, convergent strabismus, a bulbous nose with broad and prominent bridge, short upper
Cytogenetic findings in a case of partial trisomy 6p due to a translocation t(6;20)(p21;p13) and eleven balanced translocation heterozygotes are described. The clinical data of the proposita are compared with those of five other published cases. A partial trisomy 6p syndrome is postulated, character