We report on a female infant with partial trisomy 9p (pterβp13) and partial trisomy 14q (pterβq22) resulting from a 3:1 segregation of a maternal reciprocal translocation (9;14)(p13;q22). Both trisomy 9p and partial trisomy 14q have been described as recognized phenotypes with characteristic pattern
Partial trisomy 16q resulting from maternal translocation
β Scribed by P. Balestrazzi; G. Giovannelli; L. Landucci Rubini; B. Dallapiccola
- Publisher
- Springer
- Year
- 1979
- Tongue
- English
- Weight
- 726 KB
- Volume
- 49
- Category
- Article
- ISSN
- 0340-6717
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β¦ Synopsis
A 3 1/2-year-old male with partial trisomy of the long arm of chromosome 16 resulting from a maternal balanced translocation is described. Karyotype: 46,XY,--22,der(22),t(16;22)(q21;p12)mat.
π SIMILAR VOLUMES
The clinical picture found in a child with trisomy 9p confirmed that this chromosomal syndrome is a entity, which arises from maternal translocation t(9;21).
A 3-year-old child with tertiary trisomy (14 (+14q--), daughter of a mother with a balanced reciprocal translocation [46,XX,t(14;16)(q11;q24) is presented. Craniostenosis and developmental retardation were the primary presenting features in this patient.
A female infant with partial trisomy 13, 46,XX,der(5),t(5;13) (p15;q22)mat, for the distal part of the long arm is reported. The clinical and autopsy findings were similar to those of complete trisomy 13, except for harelip and cleft palate, and sloping forehead. Fetal hemoglobin and nuclear appenda