Familial pericentric inversion of chromosome 8

American Journal of Medical Genetics
E SujanskyA Robinson

Abstract

Eight children from seven presumably unrelated families were identified independently as having an unbalanced recombinant chromosome resulting in the presence of extra material on the short arm of a chromosome 8. Parental chromosomes were analyzed, and one member of each couple (four fathers and three mothers) was found to carry a pericentric inversion of a chromosome 8 [inv(8)(p23q22)]. The propositi had an unbalanced recombinant chromosome [rec(8),dup q,inv(8)(p23q22)]. The affected infants all had developmental delay, congenital heart disease, and unusual appearance. A common origin of the pericentric inversion was suggested because of geographic location and Mexican--American ancestry of the seven families.

References

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Citations

Jan 1, 1991·Pediatric Radiology·S L Williamson, C L Clericuzio
Feb 1, 1985·Journal of Medical Genetics·I C BarnesR J Bell
Nov 1, 1991·American Journal of Obstetrics and Gynecology·L A IzquierdoG E Sarto
Jul 27, 1999·American Journal of Human Genetics·M ManginoB Dallapiccola
Sep 15, 1993·American Journal of Medical Genetics·E SujanskyA Robinson
Jun 1, 1990·American Journal of Medical Genetics·C G PalmerM Bull
Jan 1, 1988·American Journal of Medical Genetics. Supplement·M M Cohen
Jan 1, 1992·American Journal of Medical Genetics·R F StrattonE Shapira
Oct 1, 1989·Clinical Genetics·T MattinaG Sorge
Sep 13, 2002·Pediatrics International : Official Journal of the Japan Pediatric Society·Kiminori MasudaKoichiro Miyata

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