A complex chromosome rearrangement involving four chromosomes, nine breakpoints and a cryptic 0.6-Mb deletion in a boy with cerebellar hypoplasia and defects in skull ossification.

Guilherme, R S; Cernach, M C S P; Sfakianakis, T E; Takeno, S S; Nardozza, L M M; Rossi, C; Bhatt, S S; Liehr, T; Melaragno, M I

Guilherme, R S; Cernach, M C S P; Sfakianakis, T E; Takeno, S S; Nardozza, L M M; Rossi, C; Bhatt, S S; Liehr, T; Melaragno, M I.

Affiliation

Guilherme RS; Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil.

Cytogenet Genome Res ; 141(4): 317-23, 2013.

Article in En | MEDLINE | ID: mdl-23817307

Subject(s)

Cerebellum/abnormalities; Chromosome Aberrations; Chromosome Breakage; Chromosome Deletion; Nervous System Malformations/genetics; Chromosome Banding; Chromosomes, Human, Pair 14/genetics; Chromosomes, Human, Pair 3/genetics; Chromosomes, Human, Pair 6/genetics; Chromosomes, Human, Pair 8/genetics; Developmental Disabilities/genetics; Gene Rearrangement; Humans; Infant; Karyotyping; Male; Skull; Translocation, Genetic

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cerebellum / Chromosome Aberrations / Chromosome Deletion / Chromosome Breakage / Nervous System Malformations Limits: Humans / Infant / Male Language: En Journal: Cytogenet Genome Res Journal subject: GENETICA Year: 2013 Type: Article Affiliation country: Brazil

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