Mental retardation, tall stature and minor phenotypic abnormalities associated with a de novo complex chromosome rearrangement.
De Brasi
D
D
Della Casa
R
R
Titomanlio
L
L
D'Agostino
A
A
Perone
L
L
Andria
G
G
D000015:Abnormalities, Multiple; D001827:Body Height / Q000235:genetics*; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D005260:Female; D015321:Gene Rearrangement / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D010641:Phenotype