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.

Cerebellar dysgenesis and mental retardation associated with a complex chromosome rearrangement

MASERATI, EMANUELA;
1999

Abstract

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, Emanuela; Verri, A.; Seghezzi, L.; Tupler, R.; Federico, A.; Tiepolo, L.; Maraschio, P.
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11383/1489254
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