Ectrodactyly and proximal/intermediate interstitial deletion 7q
- 13 March 1995
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 56 (1) , 1-5
- https://doi.org/10.1002/ajmg.1320560102
Abstract
We report on an individual with sever mental retardation, seizures, microcephaly unusual face, scoliosis, and cleft feet and cleft right hand. The chromosomal study showed a proximal interstitial deletion 7c (qll.23q22). From our review of the litera ture, 11 patients have been reported with ectrodactyly (split hand/split foot malforma tion) and proximal/intermediate interstitial deletions or rearrangements of 7q. The critical segment for ectrodactyly seems to be located between 7q21.2 and 7q22.1. This malformation is present in 41% of the patients whose deletion involves the critical segment.Keywords
This publication has 29 references indexed in Scilit:
- Reply to Dr. Rogers: Comments on ectrodactyly and trisomy 18, and other conditionsAmerican Journal of Medical Genetics, 1994
- Human situs determination and chromosome constitution 46,XY,ins(7;8)(q22;q12q24)American Journal of Medical Genetics, 1993
- Inverted insertion of chromosome 7q and ectrodactylyAmerican Journal of Medical Genetics, 1993
- Reply to Dr. TurnpennyAmerican Journal of Medical Genetics, 1992
- Ectrodactyly with multiple congenital abnormalitiesAmerican Journal of Medical Genetics, 1992
- Bilateral split hand and split foot malformation in a boy with a de novo interstitial deletion of 7q21.3Journal of Medical Genetics, 1991
- Ectrodactyly of hands and feet in a child with a complex translocation including 7q21.2American Journal of Medical Genetics, 1991
- A summary of 7q interstitial deletions and exclusion mapping of the gene for beta-glucuronidase.Journal of Medical Genetics, 1989
- Cat-like cry and mental retardation owing to 7q interstitial deletion (7q22 leads to 7q32).Journal of Medical Genetics, 1982
- Familial partial 7q monosomy resulting from segregation of an insertional chromosome rearrangement.Journal of Medical Genetics, 1979