Trisomy 6q25 to 6qter in a severely retarded 7-year-old boy with turricephaly, bow-shaped mouth, hypogenitalism and club feet

Hum Genet. 1979 Feb 15;46(3):279-84. doi: 10.1007/BF00273311.


Trisomy for a small terminal segment of chromosome 6q produces a characteristic syndrome of malformations and dysmorphic signs which, on the basis of comparison with a previously published case, may be suspected on clinical grounds. The present case concerns a 7-year-old boy, the son of a carrier mother t(6;14)(q25;qter). The main symptoms are: very severe physical and mental retardation, turricephaly, Cupid's bow mouth with narrow lips, almond-shaped eyes with narrow palpebral fissures and ptosis, micropenis with absence of scrotum, club feet, hammer toes, and extension contractures. In addition, there are a great many minor dysmorphic features.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Child
  • Chromosomes, Human, 6-12 and X*
  • Clubfoot / genetics
  • Craniosynostoses / genetics
  • Humans
  • Hypogonadism / genetics
  • Intellectual Disability / genetics
  • Karyotyping
  • Male
  • Mouth Abnormalities / genetics
  • Trisomy*