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Case Reports
. 1977 Dec;14(6):451-5.
doi: 10.1136/jmg.14.6.451.

Ring chromosome 8 in a boy with multiple congenital abnormalities and mental retardation

A J Hamers, C van Kempen
Case Reports

Ring chromosome 8 in a boy with multiple congenital abnormalities and mental retardation

A J Hamers et al. J Med Genet. 1977 Dec.

Abstract

A ring chromosome 8 was found in peripheral blood cells in a boy, whose chromosomes were studied because of multiple congenital anomalies. Examination of skin cells revealed a 46,XY/46,XY,8r pattern. Application of several banding techniques suggested a duplication of the most distal bands of both arms in the ring. The terminal end of 8q appeared to have been retained as could be shown by R-banding. The anaesthesia and surgery the mother underwent in the first month of her pregnancy is considered as a possible cause of the chromosome abnormality.

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References

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