47,XXX/48,XXXX in a retarded three year old girl with multiple somatic anomalies.
A 3-year old girl with 47,XXX/48,XXXX caryotype is presented. She suffers from psychomotor retardation, dolichocephaly, malformed ears, "a false air of trisomy 21", malformation of the legs, obesity. The authors discuss briefly the available data on the triplo and tetra X phenotype and syndromes.
D000015:Abnormalities, Multiple / Q000473:pathology*; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000473:pathology*; D007621:Karyotyping; D010641:Phenotype; D012729:Sex Chromosome Aberrations / Q000473:pathology; D013577:Syndrome; D014960:X Chromosome