Clinical and molecular characterization of a patient with interstitial 6q21q22.1 deletion

Molecular Cytogenetics

Volumn 8, Issue 1, 2015, Pages

  Tassano, Elisa ^a   Mirabelli Badenier, Marisol ^a   Veneselli, Edvige ^a   Puliti, Aldamaria ^a,b   Lerone, Margherita ^a   Vaccari, Carlotta Maria ^b   Morana, Giovanni ^a   Porta, Simona ^a   Gimelli, Giorgio ^a   Cuoco, Cristina ^a  

^a G GASLINI INSTITUTE   (Italy)

^b UNIVERSITY OF GENOA   (Italy)

Author keywords

6q21q22.1; Array CGH; Interstitial deletion; Karyotype phenotype correlation; Poland syndrome

Indexed keywords

HISTONE DEACETYLASE 2; LAMININ ALPHA4; MARCKS PROTEIN; PROTEIN KINASE FYN;

ADOLESCENT; ARTICLE; BIRTH WEIGHT; BRAIN MALFORMATION; CASE REPORT; CERVICAL SPINE RADIOGRAPHY; CHROMOSOME 6Q; CHROMOSOME 6Q21Q22.1; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; COGNITIVE DEFECT; COL10A1 GENE; DEVELOPMENTAL DISORDER; EVOKED RESPONSE; FACE DYSMORPHIA; FRK GENE; FYN GENE; GENE; GENETIC ASSOCIATION; GENETIC CORRELATION; HDAC2 GENE; HS3ST5 GENE; HUMAN; KARYOTYPE; LAMA4 GENE; MALE; MARCKS GENE; MICROCEPHALY; MUSCLE MALFORMATION; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PARAGUAY; PHENOTYPE; POLAND SYNDROME; PRIORITY JOURNAL; SCOLIOSIS; SKELETON MALFORMATION; TERM BIRTH; TRAF3IP2 GENE; TUBE1 GENE; WISP3 GENE;

EID: 84930674123     PISSN: None     EISSN: 17558166     Source Type: Journal    
DOI: 10.1186/s13039-015-0134-7     Document Type: Article

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