Trisomy 4p: five new observations and overview.
Five new cases of trisomy of the short arm of chromosome No. 4 are presented. In two brothers the abnormality arose from segregation of the 4p chromosome present in the mother who is a carrier of a centric fission of one No. 4 chromosome. In the other three patients, the chromosome imbalance originated from segregation of a balanced maternal 3p/4q or 4/22 translocation. The available data, derived from the 4p trisomics reported so far, are adequate to establish trisomy of the short arm of chromosome No. 4 as a definite clinical entity. The most outstanding findings include growth retardation of prenatal onset, severe mental deficiency, microcephaly and a peculiar constellation of facial dysmorphisms. The dermatoglyphic patterns and the radiological findings may help towards a correct interpretation of the syndrome.
D000015:Abnormalities, Multiple / Q000235:genetics; D002905:Chromosomes, Human, 4-5; D005145:Face / Q000002:abnormalities; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008831:Microcephaly / Q000235:genetics; D011247:Pregnancy; D013577:Syndrome; D014314:Trisomy