[Monosomy 4 p-- (Wolf-Hirschorn's syndrome)].
The phenotype of the 4 p-- syndrome may be clinically distinguished from the one of the 5 p-- syndrome by the presence of fusion abnormalities of the median line. In the case reported, these abnormalities concerned a cleft palate, an iris coloboma and a fistula of the sacrum, in addition to an important hypotrophy and a severe mental retardation associated with epilepsy.
D000015:Abnormalities, Multiple / Q000175:diagnosis; D002869:Chromosome Aberrations / Q000175:diagnosis*; D025063:Chromosome Disorders; D002905:Chromosomes, Human, 4-5; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping
Monosomie 4 p-- (syndrome de Wolf-Hirschhorn).