An infant with ring 17 chromosome and unusual dermatoglyphs: a new syndrome?
- 1 June 1981
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 18 (3) , 234-236
- https://doi.org/10.1136/jmg.18.3.234
Abstract
A case of ring 17 chromosome in a 5 mo. old male infant is investigated and compared with 5 previously reported cases. The findings commonly observed in these patients include mental and motor retardation, seizures, short stature, muscular hypotonia and microcephaly. Dermatoglyphic studies showed an increased number of ulnar loops. Bilateral transverse hypothenar creases were noted. Two of the cases had unspecified genital abnormalities. The variation in clinical findings among these patients may be due to a difference in the breakpoints on chromosome 17.This publication has 6 references indexed in Scilit:
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- [A familial case of 17 r ring-shaped chromosome of group E with transmission from father to son].1973
- A RAPID BANDING TECHNIQUE FOR HUMAN CHROMOSOMESThe Lancet, 1971
- [Study of a 46,XX-46,XX,17r mosaicism].1971