title: Apparent Smith-Lemli-Opitz syndrome and Miller-Dieker syndrome in a family with segregating translocation t(7;17)(q34;p13.1).
abstract: We describe a family in which one male infant presented with Miller-Dieker syndrome and four male relatives had a phenotype similar to the Smith-Lemli-Opitz (SLO) syndrome. High resolution cytogenetic analysis on the child with Miller-Dieker syndrome showed 46,XY,-17,+der17t(7;17)(q34:p13.1). Paternal chromosomes showed a balanced translocation: 46,XY,t(7;17)(q34:p13.1). The paternal grandmother had a history of multiple miscarriages, and a paternal uncle had two sons who died neonatally. Chromosomes on these children and their father had originally been reported as normal. There was also a paternal cousin to the father of the propositus who had had two sons with similar clinical findings. A diagnosis of SLO syndrome was considered. Image enhancement techniques on previous suboptimal preparations on these four children documented the subtle unbalanced translocation 46,XY,-7,+der7t(7;17)(q34:p13.1). Subsequent high resolution analysis on one of these four children who was still living confirmed this chromosome constitution. It is postulated that these apparent SLO cases may represent a contiguous gene syndrome in which SLO or a separate entity closely mimicking the syndrome in included.
authors.affiliation: Department of Pediatric Medicine, Children's Hospital, Denver, CO 80218.
authors.forename: R
authors.initials: R
authors.lastname: Berry
authors.forename: H
authors.initials: H
authors.lastname: Wilson
authors.forename: J
authors.initials: J
authors.lastname: Robinson
authors.forename: C
authors.initials: C
authors.lastname: Sandlin
authors.forename: W
authors.initials: W
authors.lastname: Tyson
authors.forename: J
authors.initials: J
authors.lastname: Campbell
authors.forename: R
authors.initials: R
authors.lastname: Porreco
authors.forename: D
authors.initials: D
authors.lastname: Manchester
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001921:Brain / Q000002:abnormalities*; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002886:Chromosomes, Human, Pair 17 / Q000648:ultrastructure*; D002897:Chromosomes, Human, Pair 7 / Q000648:ultrastructure*; D006801:Humans; D007089:Image Enhancement; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D010375:Pedigree; D007690:Polycystic Kidney Diseases / Q000235:genetics*; D013577:Syndrome; D014178:Translocation, Genetic