[Trisomy 9p: a clinical picture and the importance of examining the family].
In three patients, two males aged four months and 39 years, and a female aged 19 years, trisomy 9p (the threefold presence of the short arm of chromosome 9) was diagnosed. The main symptoms are mental retardation, brachycephaly, hypertelorism with deep-set eyes, broad base of the nose, short philtrum, carp-shaped mouth, cup-shaped ears, short fingers and clinodactyly. Trisomy 9p is often caused by a balanced translocation in one of the parents. Therefore, cytogenetic studies of the parents and if appropriate other relatives are necessary. If one of the parents carries a translocation, the recurrence risk may vary from 2% to 15%. This depends on the length and origin of the chromosomal translocation segments. In case a translocation is found, genetic counselling of family members is warranted; it should include information concerning clinical symptoms, recurrence risks, prenatal diagnosis and other family planning alternatives.
D000328:Adult; D002869:Chromosome Aberrations / Q000175:diagnosis* / Q000235:genetics*; D025063:Chromosome Disorders; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D005190:Family; D005260:Female; D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000209:etiology; D008297:Male; D013577:Syndrome; D014314:Trisomy / Q000175:diagnosis* / Q000235:genetics