Apparent Smith-Lemli-Opitz syndrome and Miller-Dieker syndrome in a family with segregating translocation t(7;17)(q34;p13.1)

Am J Med Genet. 1989 Nov;34(3):358-65. doi: 10.1002/ajmg.1320340312.


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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Brain / abnormalities*
  • Chromosome Aberrations / genetics*
  • Chromosome Disorders
  • Chromosomes, Human, Pair 17 / ultrastructure*
  • Chromosomes, Human, Pair 7 / ultrastructure*
  • Humans
  • Image Enhancement
  • Infant, Newborn
  • Intellectual Disability / genetics
  • Male
  • Microcephaly / genetics*
  • Pedigree
  • Polycystic Kidney Diseases / genetics*
  • Syndrome
  • Translocation, Genetic*