We describe the first case of maternal uniparental disomy (UPD) of chromosome 9 in a fetus who was shown to have mosaic trisomy 9 in a chorionic villus sample. Karyotyping and molecular studies following termination of the pregnancy confirmed mosaicism in the placenta and maternal UPD(9) in the feta
Trisomy 9 mosaicism with punctate mineralization in developing cartilages
β Scribed by A. Akatsuka; O. Nishiya; T. Kitagawa; A. Kageyama; I. Inana; Y. Nakagome
- Publisher
- Springer
- Year
- 1979
- Tongue
- English
- Weight
- 973 KB
- Volume
- 131
- Category
- Article
- ISSN
- 0340-6997
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β¦ Synopsis
A case of mosaic trisomy 9 (46,XX/47,XX,+9) is described. The main clinical findings included intrauterine growth retardation, failure to thrive, hydrocephalus, deeply set eyes, prominent antihelix, highly arched palate, subluxation of the interphalangeal joints of some fingers, hip dislocation, excessive sweating, and punctate mineralization in developing cartilages.
π SIMILAR VOLUMES
Tetrasomy of the short(p) arm of chromosome 9 has been reported in few cases. Most of these children present with microbrachycephaly, wide forehead, hypertelorism, lowset, malformed ears, beaked noses, and micrognathia. Additional anomalies include short neck, congenital heart disease, genital abnor
## Abstract We report on a clinical and molecular cytogenetic study of a patient who presents a complex chromosomal rearrangement with two different cell lines. Using highβresolution GTG banding and fluorescence in situ hybridization (FISH) with several probes, including bacterial artificial chromo