Ring chromosome 17 syndrome with monosomy 17 mosaicism: case report and literature review
β Scribed by A Endo; T Uesato; M Minato; M Takada; S Takahashi; K Harada
- Book ID
- 114812012
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 66 KB
- Volume
- 88
- Category
- Article
- ISSN
- 0803-5253
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Ring (19) chromosomal mosaicism has been identified in a 14-month-old girl referred for cytogenetic evaluation due to microcephaly and developmental delay with autistic-like mannerisms. An analysis of her peripheral blood lymphocytes showeci a 46,XX,r(19) cell line in 119/121 of cells examined. Of t
A ring chromosome 6 has been identified by GTG-banding in a male with microcephaly, growth retardation, seizures, epicanthus, hypertelorism, micrognathia, and other congenital anomalies. Cytogenetic studies indicate the instability of the ring chromosome. The most common findings in subjects with ri