Private multiple congenital anomaly syndromes may result from unbalanced subtle translocations: t(2q;4p) explains the Lambotte syndrome

Am J Med Genet. 1997 Dec 12;73(2):127-31. doi: 10.1002/(sici)1096-8628(19971212)73:2<127::aid-ajmg5>;2-r.


In 1990, Lambotte syndrome was reported as an apparently autosomal recessive multiple congenital anomaly/mental retardation (MCA/MR) syndrome observed in 4 of 12 sibs from a probably consanguineous mating [Verloes et al., Am J Med Genet 1990; 37:119-123]. Major manifestations included intrauterine growth retardation (IUGR), microcephaly, large soft pinnae, hypertelorism, beaked nose, and extremely severe neurologic impairment, with holoprosencephaly in one instance. After the observation of a further affected child born of one unaffected sister, in situ hybridization analysis and chromosome painting techniques demonstrated a subtle t(2;4)(q37.1; p16.2) translocation in the mother, suggesting a combination of 2q/4p trisomy/monosomy in all of the affected children of the family. Many private sporadic or recurrent MCA/MR syndromes maybe due to similar symmetric translocations, undetectable by conventional banding techniques.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Chromosome Aberrations / genetics*
  • Chromosome Disorders
  • Chromosomes, Human, Pair 2 / genetics
  • Chromosomes, Human, Pair 4 / genetics
  • Craniofacial Abnormalities / genetics*
  • Female
  • Growth Disorders / genetics
  • Humans
  • Infant, Newborn
  • Intellectual Disability / genetics*
  • Karyotyping
  • Pregnancy
  • Syndrome
  • Translocation, Genetic / genetics*