A patient with a partial deletion of the short arm of chromosome 3.
The case of a patient with a monosomy 3p25, due to a deletion of the distal part of chromosome 3, is presented. To our knowledge this is the first patient described with this anomaly. Severe psychomotor retardation, an asymmetric skull, the facial appearance, and ear anomalies were the most striking features on examination. The parental karyotypes were normal. The localization of the breakpoint, and the possibility of roentgenographic influence in the etiology of this case are discussed.
D000015:Abnormalities, Multiple; D002872:Chromosome Deletion; D002900:Chromosomes, Human, 1-3; D004423:Ear / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome