Partial trisomy 7p associated with familial 7p;22q translocation.
A newly described partial trisomy of the short arm of chromosome number 7 is reported in a familial translocation between 7 and 22. The unbalanced translocation was found in one family member, the propositus, and the balanced form in 5 other members. The possibility of this translocation being a rare telomeric attachment previously undescribed in humans is discussed. Prominent clinical features include general mental and motor retardation, microbrachycephaly, and cardiac and oral abnormalities.
D000293:Adolescent; D000328:Adult; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002904:Chromosomes, Human, 21-22 and Y; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006330:Heart Defects, Congenital; D006801:Humans; D007223:Infant; D008607:Intellectual Disability; D007621:Karyotyping; D008297:Male; D009048:Motor Skills; D010375:Pedigree; D014178:Translocation, Genetic; D014314:Trisomy