Trisomy 9p with an isochromosome of 9p
β Scribed by Greg Smith; Alice McCaa; Thaddeus E. Kelly
- Publisher
- Springer
- Year
- 1978
- Tongue
- English
- Weight
- 247 KB
- Volume
- 42
- Category
- Article
- ISSN
- 0340-6717
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β¦ Synopsis
An 18 1/2-year-old female is described with moderately severe mental retardation, the phenotype of the trisomy 9p syndromy, and an isochromosome for the short arm of a chromosome 9, contained in an unique karyotype, 46,XX,-9,t(7q9q),+ iso 9p.
π SIMILAR VOLUMES
Trisomy 9p with de novo 9/15 translocation and 9p isochromosome was observed in a mentally defective boy with typical clinical features for this syndrome. This chromosomal aberration is probably caused by the pericentric inversion of chromosome 9 of the patient's father.
The trisomy 9p syndrome in a 2-year-old girl with moderate mental retardation is presented. She has a unique karyotype with a de novo isochromosome 9p and a translocation between 9q and 18p.
A low-birth-weight near-term male infant was found to have a non-familial 47,XΒ₯ chromosome complement with an extra medimn-sized metacentrie chromosome slightly larger than a number 16. By Giemsa-trypsin (G-banding) this extra chromosome was determined to be a number 9 with deletion of approximately
A new born male and a three-year-old female with various dysmorphic features were both found to have to have a supernumerary chromosome. Clinical and cytogenetic findings confirmed the existence of a pure de novo 9p tetrasomy in the first case and a pure de novo 9p trisomy in the second case. Gene d