Split foot and developmental retardation associated with a deletion of three microsatellite markers in 7q21.2‐q22.1
- 1 February 1995
- journal article
- case report
- Published by Wiley in Clinical Genetics
- Vol. 47 (2) , 90-95
- https://doi.org/10.1111/j.1399-0004.1995.tb03930.x
Abstract
A deletion of 7q21.2‐q22.1 has been found in a patient with split foot and developmental retardation. Molecular analysis using polymerase chain reaction (PCR) showed deletion of three microsatellite markers, D7S527, D7S479 and D7S554, in the patient's paternal chromosome. These results pinpoint the critical region for an ectrodactyly locus (SHFD1) on chromosome 7.Keywords
This publication has 16 references indexed in Scilit:
- Ectrodactyly and proximal/intermediate interstitial deletion 7qAmerican Journal of Medical Genetics, 1995
- Split hand/split foot anomaly in a family segregating a balanced translocation with breakpoint on 7q22.1American Journal of Medical Genetics, 1993
- The breakpoints of the EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) confirmed to 7q11.21 and 9p12 by fluorescence in situ hybridizationClinical Genetics, 1993
- Inverted insertion of chromosome 7q and ectrodactylyAmerican Journal of Medical Genetics, 1993
- EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) with a balanced reciprocal translocation between 7q11.21 and 9p12 (or 7p11.2 and 9q12) in three generationsClinical Genetics, 1991
- 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
- Ectro‐amelia syndrome associated with an interstitial deletion of 7qAmerican Journal of Medical Genetics, 1990
- Interstitial long‐arm deletion of chromosome 7 and ectrodactylyAmerican Journal of Medical Genetics, 1989