A 15 Mb large paracentric chromosome 21 inversion identified in Czech population through a pair of flanking duplications

Molecular Cytogenetics

Volumn 7, Issue 1, 2014, Pages

  Drabova, Jana ^a   Trkova, Marie ^b   Hancarova, Miroslava ^a   Novotna, Drahuse ^a   Hejtmankova, Michaela ^b   Havlovicova, Marketa ^a   Sedlacek, Zdenek ^a  

^a UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

^b Gennet   (Czech Republic)

Author keywords

Duplication; Founder effect; Inversion; SNP arrays; USP25

Indexed keywords

DNA;

ADOLESCENT; AGGRESSION; ANGER; ARM; ARTICLE; AUTISM; CAFE AU LAIT SPOT; CASE REPORT; CHILD; CHROMOSOME 21; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; CHROMOSOME IDENTIFICATION; CHROMOSOME REARRANGEMENT; CHROMOSOME VARIANT; CZECH (PEOPLE); DEVELOPMENTAL DISORDER; DNA FLANKING REGION; FAMILY ASSESSMENT; FAMILY HISTORY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FRONTAL BOSSING; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC SCREENING; HAPLOTYPE; HAPPY PUPPET SYNDROME; HUMAN; HUMAN CHROMOSOME; HYPERACTIVITY; INTELLECTUAL IMPAIRMENT; KARYOTYPING; MEDICAL HISTORY; MICROARRAY ANALYSIS; NEUROFIBROMATOSIS; PARACENTRIC CHROMOSOME 21 INVERSION; PARACENTRIC CHROMOSOME INVERSION; POPULATION; SEGMENTAL DUPLICATION; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM; SPONTANEOUS ABORTION; UNSTEADY GAIT;

EID: 84908447687     PISSN: None     EISSN: 17558166     Source Type: Journal    
DOI: 10.1186/1755-8166-7-51     Document Type: Article

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