Pure 16q21q22.1 deletion in a complex rearrangement possibly caused by a chromothripsis event

Molecular Cytogenetics

Volumn 6, Issue 1, 2013, Pages

  Genesio, Rita ^a   Ronga, Valentina ^a   Castelluccio, Pia ^b   Fioretti, Gennaro ^b   Mormile, Angela ^a   Leone, Graziella ^a   Conti, Anna ^a   Cavaliere, Maria Luigia ^b   Nitsch, Lucio ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b CARDARELLI HOSPITAL   (Italy)

Author keywords

Array CGH; Chromothripsis; Complex insertional translocation; Congenital heart defects; Developmental and growth delay; Dysmorphic features; Partial monosomy 16q21q22.1

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 12; CHROMOSOME 16Q; CHROMOSOME REARRANGEMENT; CHROMOTHRIPSIS; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; CYTOGENETICS; DNA END JOINING REPAIR; EAR MALFORMATION; ECHOCARDIOGRAPHY; EPICANTHUS; EXOPHTHALMOS; FACE DYSMORPHIA; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENOTYPE PHENOTYPE CORRELATION; HEAD CIRCUMFERENCE; HEART ATRIUM SEPTUM DEFECT; HEART DISEASE; HOMOLOGOUS RECOMBINATION; HUMAN; HYPERKALEMIA; KARYOTYPING; LOW BIRTH WEIGHT; MALE; MICROCEPHALY; PARTIAL MONOSOMY; PATENT FORAMEN OVALE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; RESPIRATORY DISTRESS; SHORT STATURE;

EID: 84880888748     PISSN: None     EISSN: 17558166     Source Type: Journal    
DOI: 10.1186/1755-8166-6-29     Document Type: Article

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