Linkage of preaxial polydactyly type 2 to 7q36

Journal Article · Mon Aug 28 00:00:00 EDT 1995 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/ajmg.1320580208· OSTI ID:466716

Hing, A V; Slaugh, R; Dowton, S B ^[1]

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1. Washington Univ. School of Medicine, St. Louis, MO (United States); and others

We have characterized a 6-generation North American Caucasian kindred segregating one form of preaxial polydactyly type 2 (PPD-2). We demonstrate linkage to the 7q36 region and describe a submicroscopic telomeric chromosomal deletion in phase with the PPD-2 phenotype. Recently, several kindreds segregating triphalangeal thumb (TPT) with and without associated hand anomalies (syndactyly and/or postaxial polydactyly) have also been linked to the subtelomeric region of chromosome 7q. We demonstrate by haplotype analysis that our North American pedigree represents a PPD allele that is independent of the founder PPD allele present in the previously described kindreds. 23 refs., 5 figs., 2 tabs.

• Sponsoring Organization: USDOE
• OSTI ID: 466716
• Journal Information: American Journal of Medical Genetics, Vol. 58, Issue 2; Other Information: PBD: 28 Aug 1995
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
PATIENTS
HEREDITARY DISEASES
GENOTYPE
PHENOTYPE
GENETIC MAPPING
L CODES
HUMAN CHROMOSOME 7
CHROMOSOMAL ABERRATIONS
LIMBS
ONTOGENESIS
CONGENITAL MALFORMATIONS
HANDS
GENETICS
TELOMERES
BIOLOGICAL MARKERS
RFLPS
HYBRIDIZATION
DNA-CLONING
NUCLEOTIDES