title: Smith-Lemli-Opitz syndrome in a female with a de novo, balanced translocation involving 7q32: probable disruption of an SLOS gene.
abstract: A 3-month-old infant girl had manifestations of the Smith-Lemli-Opitz syndrome (SLOS) including typical positional anomalies of the limbs, apparent Hirschsprung disease, cataracts, ptosis, anteverted nares, cleft of the posterior palate, small tongue, broad maxillary alveolar ridges, and abnormally low serum cholesterol levels. Chromosomal analysis showed a de novo balanced translocation interpreted as 46,XX,t(7;20)(q32.1;q13.2). We hypothesize that the translocation breakpoint in this case interrupts one SLOS allele and that the other allele at the same locus has a more subtle mutation that was inherited from the other parent. This case, as well as cytogenetic observations in other SLOS cases, suggests that SLOS could be due to autosomal recessive mutation at a gene in 7q32.
authors.affiliation: Raymond C. Philips Unit, Department of Pediatrics, University of Florida College of Medicine, Gainesville 32610-0296.
authors.forename: M
authors.initials: M
authors.lastname: Wallace
authors.forename: R T
authors.initials: RT
authors.lastname: Zori
authors.forename: T
authors.initials: T
authors.lastname: Alley
authors.forename: E
authors.initials: E
authors.lastname: Whidden
authors.forename: B A
authors.initials: BA
authors.lastname: Gray
authors.forename: C A
authors.initials: CA
authors.lastname: Williams
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002784:Cholesterol / Q000096:biosynthesis; D002871:Chromosome Banding; D002890:Chromosomes, Human, Pair 20; D002897:Chromosomes, Human, Pair 7; D005145:Face / Q000002:abnormalities; D017809:Fatal Outcome; D005260:Female; D006627:Hirschsprung Disease / Q000235:genetics; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D017880:Limb Deformities, Congenital; D008052:Lipid Metabolism, Inborn Errors / Q000235:genetics; D013577:Syndrome; D014178:Translocation, Genetic
chemical_list: D002784:Cholesterol