## Abstract We report a case of a 23βyearβold pregnant woman, who underwent amniocentesis after ultrasound (US) examination in the first trimester which revealed a nuchal translucency thickness of 2.9 mm. Cytogenetic analysis revealed complete tetrasomy of the short arm of chromosome 9. Further US
A case of tetrasomy 9p
β Scribed by RURIKO ANDOU; TAKASHI MIMAKI; TOHRU OGIHARA; HIROSHI TAMAI; MAKOTO MINO
- Book ID
- 118712093
- Publisher
- John Wiley and Sons
- Year
- 1994
- Tongue
- English
- Weight
- 289 KB
- Volume
- 36
- Category
- Article
- ISSN
- 1328-8067
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π SIMILAR VOLUMES
## 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 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