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Related Experiment Videos

The 9p-syndrome.

S J Funderburk, R S Sparkes, I Klisak

    Journal of Medical Genetics
    |February 1, 1979
    PubMed
    Summary
    This summary is machine-generated.

    A 13-year-old boy with a 9p deletion (9p-) showed unique symptoms like polydactyly and precocious puberty. Genetic analysis confirmed the deletion is distal to 9p22, excluding the GALT enzyme locus.

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    Area of Science:

    • Genetics
    • Human Chromosome Abnormalities
    • Pediatric Medicine

    Background:

    • 9p deletion syndrome is a rare chromosomal disorder characterized by a partial deletion of the short arm of chromosome 9.
    • Previous cases have identified a common breakpoint region, but significant phenotypic variability exists.

    Observation:

    • A 13-year-old male presented with features consistent with 9p deletion syndrome.
    • Distinctive clinical manifestations included polydactyly and precocious puberty, not typically reported in all 9p- cases.
    • Cytogenetic analysis revealed a de novo deletion of chromosome 9, specifically distal to band 9p22.

    Findings:

    • The identified deletion breakpoint is located distal to 9p22, aligning with the breakpoint in the majority of previously reported 9p- cases.

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  • Evaluation of the human galactose-1-phosphate uridyltransferase (GALT) enzyme locus indicated that it is not located within the deleted chromosomal segment.

    • Implications:

    • This case expands the known phenotypic spectrum of 9p deletion syndrome, highlighting the importance of detailed clinical and cytogenetic evaluation.
    • The findings contribute to refining the critical region for 9p deletion syndrome and understanding genotype-phenotype correlations.
    • Exclusion of the GALT enzyme locus from the deleted region provides further genetic mapping information for chromosome 9.