Clinico-radiological and molecular characterization of a child with ring chromosome 2 presenting growth failure, microcephaly, kidney and brain malformations

Molecular Cytogenetics

Volumn 8, Issue 1, 2015, Pages

  Severino, Mariasavina ^a   Accogli, Andrea ^a   Gimelli, Giorgio ^a   Rossi, Andrea ^a   Kotzeva, Svetlana ^a   Di Rocco, Maja ^a   Ronchetto, Patrizia ^a   Cuoco, Cristina ^a   Tassano, Elisa ^a  

^a G GASLINI INSTITUTE   (Italy)

Author keywords

2p25.3 deletion; 2q37.3 deletion; Array CGH; Brain MRI; Diffusion tensor imaging; Ring chromosome 2

Indexed keywords

ARTICLE; AXONAL GUIDANCE DEFECT; BONE MALFORMATION; BRAIN MALFORMATION; CASE REPORT; CHILD; CHROMOSOME 2P; CHROMOSOME 2Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; COMPARATIVE GENOMIC HYBRIDIZATION; CORTICAL GYRATION; CYTOGENETICS; DIFFUSION TENSOR IMAGING; DISEASE SEVERITY; FACE DYSMORPHIA; GENOTYPE PHENOTYPE CORRELATION; GROWTH DISORDER; HUMAN; KARYOTYPE; KIDNEY MALFORMATION; MALE; MICROCEPHALY; MOLECULAR GENETICS; NEUROIMAGING; NEURORADIOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; PONTINE HYPOPLASIA; PRESCHOOL CHILD; PRIORITY JOURNAL; RARE DISEASE; RING CHROMOSOME; RING CHROMOSOME 2; THICK POSTERIOR CORPUS CALLOSUM;

EID: 84924963091     PISSN: None     EISSN: 17558166     Source Type: Journal    
DOI: 10.1186/s13039-015-0121-z     Document Type: Article

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