Cerebellar dysgenesis and mental retardation associated with a complex chromosome rearrangement.
Cerebellar hypoplasia, mild mental retardation, skeletal abnormalities, and ataxia were present in a 40 years old patient with a complex chromosome rearrangement (CCR). Chromosomes 2, 5, 16, and 17 were involved in the CCR. For the definition of the eight breakpoints leading to the rearrangement FISH with whole chromosomes paintings and specific telomeric probes was employed. Gene disruption, positional effect variegation, and sub-microscopic deletions are all possible causes for the abnormal phenotype observed in the patient.
Maserati
E
E
Centro di Genetica Clinica, Università di Sassari, Italy.
Verri
A
A
Seghezzi
L
L
Tupler
R
R
Federico
A
A
Tiepolo
L
L
Maraschio
P
P
D000328:Adult; D002531:Cerebellum / Q000002:abnormalities*; D002869:Chromosome Aberrations; D002874:Chromosome Mapping; D002885:Chromosomes, Human, Pair 16; D002886:Chromosomes, Human, Pair 17; D002889:Chromosomes, Human, Pair 2; D002895:Chromosomes, Human, Pair 5; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male