The problem of partial trisomy 22 reconsidered
β Scribed by G. M. Feldman; R. S. Sparkes
- Publisher
- Springer
- Year
- 1978
- Tongue
- English
- Weight
- 277 KB
- Volume
- 45
- Category
- Article
- ISSN
- 0340-6717
No coin nor oath required. For personal study only.
β¦ Synopsis
A patient with partial trisomy 22(PT22) is presented. Inheritance is presumed to be due to secondary nondisjunction in her mother, who has a balanced translocation t(11;22)(q25;q13). The problem of the phenotypic heterogeneity observed with this chromosome change is discussed.
π SIMILAR VOLUMES
The case of a 4-month-old male with a de novo partial trisomy for chromosome 14 involving the pl3-+q24 portion is reported. He presented with growth and psychomotor retardation, peculiar facies due to nose-mouth anomalies, monolateral mierophtalmia, high arched palate, and anomalies of hands and fee
A family is reported in which the propositus has an extra G-like chromosome with an unusual G-banding pattern. Cytogenetic family studies showed that the mother is a carrier of a balanced reciprocal translocation t(13;22), which does not affect the size and morphology of the chromosomes involved. Th
The case of a male infant with duplication of the distal segment of chromosome 14q is described. There was an extra chromosomal segment at the distal end of the long arm of chromosome 17. Banding techniques suggested that the extra segment might be the distal segment of chromosome 14q. DNA analysis
A patient with partial trisomy 9 (47,XX,+9pter----q22.1) had bilateral cleft lip and cleft palate, enophthalmos, severe micrognathia, small, apparently low-set ears, and dislocatable knees. The phenotypic findings are compared with those of other documented cases of total trisomy 9.