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A case of tetrasomy 9p

✍ 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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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