De novo del(4) (p15.32) with incomplete expression of the Wolf-Hirschhorn syndrome.
A 7 7/12-year-old girl with a de novo deletion 4p15.32----pter without the typical Wolf-Hirschhorn syndrome (WHS) is presented. This observation and others from medical literature suggest that monosomy 4p15.31----4p15.32, rather than 4p16, is the cause of the typical WHS.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002872:Chromosome Deletion; D002905:Chromosomes, Human, 4-5; D002658:Developmental Disabilities / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D012886:Skull / Q000002:abnormalities; D013577:Syndrome