Holoprosencephaly, hypertelorism, and ectrodactyly in a boy with an apparently balanced de novo t(2;4) (q14.2;q35)

Am J Med Genet. 2000 Feb 28;90(5):423-6. doi: 10.1002/(sici)1096-8628(20000228)90:5<423::aid-ajmg12>3.0.co;2-k.

Abstract

A holoprosencephaly, hypertelorism, and ectrodactyly syndrome (HHES) was described in three previous cases in whom chromosomes were apparently normal. We report on a 3-year-old boy with HHES and a de novo apparently balanced t(2;4)(q14.2;q35) confirmed by fluorescent in situ hybridization. He had severe growth and mental retardation, lobar holoprosencephaly, hypertelorism, microphthalmos, and iris, choroid, and retina colobomata. Less-severe facial involvement correlates with the semilobar type of holoprosencephaly; limb defects consisted of foot ectrodactyly and syndactyly. All previous HHES cases were sporadic and of unknown cause. A cryptic imbalance secondary to the translocation (2;4) in our patient may explain the phenotype.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Child, Preschool
  • Chromosomes, Human, Pair 2
  • Chromosomes, Human, Pair 4
  • Foot Deformities, Congenital / genetics*
  • Holoprosencephaly / genetics*
  • Humans
  • Hypertelorism / genetics*
  • In Situ Hybridization, Fluorescence
  • Male
  • Translocation, Genetic / genetics*