Brief clinical report: cebocephaly-holoprosencephaly in a newborn girl with a terminal 7q deletion [46,XX,del(7)(pter leads to q32:)].
Cytogenetic study of a day-old infant showed a terminal del(7q): 46,XX,del(7)(pter leads to q32:). This infant had cebocephaly with holoprosencephaly. These clinical findings are atypical for the 7q - syndrome, in which patients usually have growth and mental retardation with few facial abnormalities.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002906:Chromosomes, Human, 6-12 and X; D002972:Cleft Palate / Q000235:genetics; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008437:Maxilla / Q000002:abnormalities; D008850:Microphthalmos / Q000235:genetics; D009666:Nose / Q000002:abnormalities