Partial trisomy 4q in two unrelated cases.
Two unrelated cases of 4q trisomy are described with trisomic segment 4q25 leads to 4qter. The most conspicuous symptoms are psychomotor retardation, microcephaly, malformed ears, retrognathia, finger and toe malformations and cryptorchism in a male. Both cases are compared with 19 previously reported ones.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002905:Chromosomes, Human, 4-5; D004431:Ear, External / Q000002:abnormalities; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D008831:Microcephaly / Q000235:genetics; D011596:Psychomotor Disorders / Q000235:genetics; D063173:Retrognathia / Q000235:genetics; D014314:Trisomy