Trisomy 6q25 to 6qter in a severely retarded 7-year-old boy with turricephaly, bow-shaped mouth, hypogenitalism and club feet.
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.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002906:Chromosomes, Human, 6-12 and X; D003025:Clubfoot / Q000235:genetics; D003398:Craniosynostoses / Q000235:genetics; D006801:Humans; D007006:Hypogonadism / Q000235:genetics; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D009056:Mouth Abnormalities / Q000235:genetics; D014314:Trisomy