Unusual pathologic findings in a girl with Wolf-Hirschhorn syndrome, del (4p).
A newborn girl with Wolf-Hirschhorn syndrome and 46, XX, del (4) (p15) de novo karyotype is described. Unusual pathologic and histologic findings were observed at autopsy in the cardiovascular, respiratory, alimentary, and urogenital systems. Of over 100 cases reported in the literature, only 18 include pathologic findings.
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D001921:Brain / Q000002:abnormalities; D002869:Chromosome Aberrations / Q000473:pathology*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002894:Chromosomes, Human, Pair 4; D004065:Digestive System Abnormalities; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics; D006330:Heart Defects, Congenital / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008168:Lung / Q000002:abnormalities; D011247:Pregnancy; D013577:Syndrome; D014564:Urogenital Abnormalities