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 ritardation associated with a complex chromosomal rearrangement / Maserati, E; Verri, A; Seghezzi, L; Tupler, Rossella; Federico, A; Tiepolo, L; Maraschio, P.. - In: ANNALES DE GENETIQUE. - ISSN 0003-3995. - STAMPA. - 42:(1999), pp. 210-214.
Cerebellar dysgenesis and mental ritardation associated with a complex chromosomal rearrangement.
TUPLER, Rossella;
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.
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