Publication: Mosaic-trisomy and pericentric inversion of chromosome 9 in a malformed boy
Mosaic-trisomy and pericentric inversion of chromosome 9 in a malformed boy
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Schinzel, A., Hayashi, K., & Schmid, W. (1974). Mosaic-trisomy and pericentric inversion of chromosome 9 in a malformed boy. Human Genetics, 25(3), 171–177. https://doi.org/10.1007/bf00281424
Abstract
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Abstract
Mosaicism for an extra chromosome 9 was found in an underweight male newborn with multiple malformations. Clinical findings included a peculiar face with hypertelorism, mongoloid position of the eyes, narrow palpebral fissures, enophthalmos, broadbased nose with bulbous tip, high-arched palate, short mandible, dysmorphic ears with a unilateral preauricular tag, thoracic kyphosis, 13 ribs bilaterally, cryptorchidism, flexion position of the hands and fingers, muscular hypotonia, and severe psychomotor retardation. An additional chromos
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- Schinzel, Albert
- Hayashi, Kaori
- Schmid, Werner
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Schinzel, A., Hayashi, K., & Schmid, W. (1974). Mosaic-trisomy and pericentric inversion of chromosome 9 in a malformed boy. Human Genetics, 25(3), 171–177. https://doi.org/10.1007/bf00281424
