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
Azoospermia and paternal autosomal ring chromosomes: case report and literature review
โ Scribed by Hemashree Rajesh; Mary-Louise Freckmann; Michael Chapman
- Book ID
- 118498698
- Publisher
- Reproductive Healthcare Ltd
- Year
- 2011
- Tongue
- English
- Weight
- 257 KB
- Volume
- 23
- Category
- Article
- ISSN
- 1472-6491
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Uniparental disomy (UPD) for several chromosomes has been associated with disease phenotypes. Maternal UPD for chromosome 14 has been described and has a characteristic abnormal phenotype. Paternal UPD14 is rare and only three previous cases have been reported. We describe a new case of paternal UPD
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