Microdeletion and microduplication 17q21.31 plus an additional CNV, in patients with intellectual disability, identified by array-CGH

Gene

Volumn 492, Issue 1, 2012, Pages 319-324

  Kitsiou Tzeli, Sophia ^a   Frysira, Helen ^a   Giannikou, Krinio ^a,b   Syrmou, Areti ^a   Kosma, Konstantina ^a   Kakourou, Georgia ^a   Leze, Eleni ^a   Sofocleous, Christalena ^a   Kanavakis, Emmanuel ^a   Tzetis, Maria ^a  

^a UNIVERSITY OF ATHENS MEDICAL SCHOOL   (Greece)

^b Children's Hospital   (Greece)

Author keywords

17q21.31 syndrome; Array CGH; Double CNV hit; MAPT gene

Indexed keywords

DNA;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 17Q; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; DNA METHYLATION; FEMALE; GENOTYPE; HUMAN; MALE; MENTAL DEFICIENCY; MENTAL RETARDATION MALFORMATION SYNDROME; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ADOLESCENT; CHILD; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 17; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; HUMANS; INTELLECTUAL DISABILITY; MALE; SEQUENCE DELETION; SYNDROME;

EID: 84155186414     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2011.10.023     Document Type: Article

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