PMID: 8950676Nov 1, 1996Paper

Exclusion of candidate loci and cholesterol biosynthetic abnormalities in familial Pallister-Hall syndrome

Journal of Medical Genetics
L G BieseckerJ M Graham

Abstract

Pallister-Hall syndrome (PHS) was originally described in 1980 in six sporadic cases of children with structural anomalies including hypothalamic hamartoma, polydactyly, imperforate anus, and renal and pulmonary anomalies. In 1993, the first familial cases were reported, including affected sibs and vertical transmission. Three of these families are sufficiently large to allow initial evaluation by linkage studies to candidate genes or loci. We have evaluated candidate loci for PHS based on three clinical observations. The first is a patient with PHS-like malformations, including a hypothalamic hamartoma, and an unbalanced translocation involving 7q and 3p. The second is a family with familial PHS where the founder's father had an autosomal dominant hand malformation previously mapped to 17q. The third is the phenotypic overlap of PHS and Smith-Lemli-Opitz syndrome. In this report, we exclude these loci as candidates for linkage to the PHS phenotype on the basis of lod scores of less than-2.0. We conclude that hypothalamic hamartoma is not specific to PHS and that the dominant hand malformation in one of the families was a coincidence. To evaluate the relationship of PHS to Smith-Lemli-Opitz syndrome, we analysed levels of chole...Continue Reading

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Jul 1, 1996·Journal of Medical Genetics·L G Biesecker, J M Graham

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Citations

Jun 1, 1997·Journal of Medical Genetics·S KangL G Biesecker
Nov 27, 2014·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Judith G Hall
Nov 26, 2009·Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine·Ilan E Timor-TritschJohn G Pappas

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