Partial trisomy 10p and familial translocation t(7;10)(p22;p12)
โ Scribed by George Johnson; Ronald Bachman; Terry Roed; Peggy Riddervold
- Publisher
- Springer
- Year
- 1977
- Tongue
- English
- Weight
- 376 KB
- Volume
- 35
- Category
- Article
- ISSN
- 0340-6717
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โฆ Synopsis
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 circumference, and club feet.
๐ SIMILAR VOLUMES
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
Partial trisomy (interchromosomal duplication) of the short arm of chromosome No. 12 was observed in an infant girl with psychomotor retardation, prominent forehead, ptosis of the right eyelid, esotropia/exotropia, flat nose, hypotonia and other anomalies. A comparison of her features with those in
This report describes a malformed infant with distal 2q trisomy/distal 18p monosomy due to adjacent segregation of a familial t(2;18). The rearrangement was present in four generations, and linkage studies were performed.