Full trisomy 7 and Potter syndrome.
A patient with typical Potter's syndrome and full trisomy 7 is described. All previous reports on chromosome 7 abnormalities, whether monosomic or trisomic, p or q, are reviewed and discussed, establishing two 7q trisomy syndromes: 7q22 ts leads 7q31 and 7q22, q31 leads to 7qter. Some implications of the finding of full trisomy 7 in a case of Potter's syndrome are discussed.
D001344:Autopsy; D001842:Bone and Bones / Q000002:abnormalities*; D002906:Chromosomes, Human, 6-12 and X; D003394:Craniofacial Dysostosis / Q000235:genetics*; D004200:Diseases in Twins; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D006972:Hypertelorism / Q000235:genetics*; D007231:Infant, Newborn; D007621:Karyotyping; D007668:Kidney / Q000002:abnormalities*; D009132:Muscles / Q000648:ultrastructure; D012867:Skin / Q000648:ultrastructure; D013577:Syndrome; D014314:Trisomy