The phenotypic spectrum of GL13 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; no phenotype prediction from the position of GL13 mutations

Article Abstract:

The phenotypic spectrum of GL13 morphopathies is discussed and it is proposed that all phenotypes associated with FL13 mutations be called 'GL13 morphopathies.' The phenotypic limits of the resulting syndromes are not clear and no genotype-phenotype correlation appears to exist. The spectrum includes autosomal dominant preaxial polydactyly type-IV (PPD-IV) and postaxial polydactyly type-A/B (PAP-A/B). A study was carried out in one family with PPD-IV, three families with dominant PAP-A/B, and one with Pallister-Hall syndrome (PHS).

United States, Germany, Switzerland, Statistical Data Included, Usage, Abnormalities, Hand, Chromosome mapping, Genetic disorders, Foot, Foot deformities

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Genomewide scan for nonsyndromic cleft lip and palate in multigenerational Indian families reveals significant evidence of linkage at 13q33.1-34

Article Abstract:

Two Indian pedigrees (UR017 and UR019) with isolated, nonsyndromic cleft palate (CL-P), in which the anomaly segregates as an autosomal dominant trait, are analyzed. The analysis resulted in the identification a novel genomic region on 13q33.1-34 that harbors a high-risk variant for CL-P in these Indian families.

Science & research, Causes of, Chromosome abnormalities, Cleft lip, Pedigree analysis

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