Hypothesis: association of the critical region of trisomy 18 and 18q2--syndrome with dermatoglyphic findings and a growth suppressor (deleted in colon cancer) locus.
Evidence from the literature is reviewed to suggest that when fingertip dermal ridge patterns in chromosomal deletion syndromes are characteristic of the opposite spectrum of the developmental scale from patterns found in cases trisomic for the same chromosomal region, the association may be a consequence of loci with growth regulatory functions. Evidence is presented that DNA markers at 18q21 should be the first candidate sequences to be used to test this hypothesis in families with fingertip arches segregating in an apparent autosomal dominant fashion.
Reed
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Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis.
D002471:Cell Transformation, Neoplastic / Q000235:genetics; D002869:Chromosome Aberrations / Q000235:genetics; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D015179:Colorectal Neoplasms / Q000235:genetics*; D015342:DNA Probes; D003878:Dermatoglyphics; D015972:Gene Expression Regulation, Neoplastic / Q000502:physiology*; D005799:Genes, Dominant / Q000235:genetics; D016147:Genes, Tumor Suppressor / Q000235:genetics*; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D014314:Trisomy
D015342:DNA Probes