Split foot and developmental retardation associated with a deletion of three microsatellite markers in 7q21.2-q22.1

J C Marinoni; R E Stevenson; J P Evans; D Geshuri; M C Phelan; C E Schwartz

doi:10.1111/j.1399-0004.1995.tb03930.x

Split foot and developmental retardation associated with a deletion of three microsatellite markers in 7q21.2-q22.1

Clin Genet. 1995 Feb;47(2):90-5. doi: 10.1111/j.1399-0004.1995.tb03930.x.

Authors

J C Marinoni¹, R E Stevenson, J P Evans, D Geshuri, M C Phelan, C E Schwartz

Affiliation

¹ Greenwood Genetic Center, SC 29646, USA.

PMID: 7606850
DOI: 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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't
Review

MeSH terms

Abnormalities, Multiple / genetics*
Child, Preschool
Chromosome Deletion*
Chromosomes, Human, Pair 7*
Foot Deformities, Congenital / genetics*
Gene Deletion
Genetic Markers
Hand Deformities, Congenital / genetics*
Humans
Intellectual Disability / genetics*
Male
Polymerase Chain Reaction
Syndactyly / genetics

Substances

Genetic Markers