7q deletion syndrome (7q32 leads to 7qter).
Four independently ascertained children who presented with unusual facies and delayed mental and physical development were found to have a similar deletion of part of the long arm of chromosome 7 (46,XX or XY, del(7)(q32); 46,XX or XY,del(7)(pter leads to q32:)). Comparison of the findings of these four cases with one other case report of a similar deletion revealed similar dysmorphologic features in all five cases.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002872:Chromosome Deletion; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D011596:Psychomotor Disorders / Q000235:genetics; D013577:Syndrome