Three cases of tetrasomy 9p
β Scribed by Dhandha, S. ;Hogge, W. A. ;Surti, U. ;McPherson, E.
- Publisher
- John Wiley and Sons
- Year
- 2002
- Tongue
- English
- Weight
- 128 KB
- Volume
- 113
- Category
- Article
- ISSN
- 0148-7299
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Tetrasomy 9p is a rare chromosomal aberration that was described in 28 previous patients. Here we report on a newborn girl who was referred for genetic evaluation because of developmental delay, hypertonicity, microcephaly, minor anomalies, and neurometabolic findings. She had an isochromosome 9p (p
To date, approximately 30 patients have been described with a tetrasomy 9p, all being caused by the presence of an isochromosome 9p. We now report on a 3-year-old boy with a de novo intrachromosomal triplication of 9p13-p22, resulting in partial tetrasomy 9p. We compared his phenotype with cases of
## Abstract ## BACKGROUND The phenotypic expression of an additional chromosome 9 causes a very broad clinical spectrum of anomalies. The prognosis for infants with nonβmosaic tetrasomy 9p is poor, and they usually die at a very early age. ## CASE In this article we present a new case of complet
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