Ring chromosome 6: Case report and review of literature
- 1 August 1979
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 50 (2) , 145-149
- https://doi.org/10.1007/bf00390235
Abstract
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 ring 6 include: profound to moderate mental retardation, microcephaly, prenatal growth failure, retarded bone age, epicanthal folds, flat nasal bridge, short neck, ears low-set or malformed, microphthalmia, and micrognathia. Linkage studies, including HLA, are consistent with reported maps of chromosome 6.This publication has 10 references indexed in Scilit:
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