Another family with a euchromatic duplication variant of 9q13-q21.1 derived from segmentally duplicated pericentromeric euchromatin

Cytogenetic and Genome Research

Volumn 141, Issue 1, 2013, Pages 64-69

  Barber, J C K ^a   Rodrigues, R ^c   Maloney, V K ^b   Taborda, F ^d   Rodrigues, M Do C ^d   Bateman, M S ^b  

^a UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^b SALISBURY NHS FOUNDATION TRUST   (United Kingdom)

^c Genética Médica e Diagnóstico Pré Natal ^*  (Czech Republic)

^d Institute of Biomedical Sciences Abel Salazar   (Portugal)

Author keywords

9q13 q21.1; BAC FISH; Copy number variant; Euchromatic variant; No phenotypic effect; Segmental duplication

Indexed keywords

ADULT; ARTICLE; BACTERIAL ARTIFICIAL CHROMOSOME; CENTROMERE; CHROMOSOME 9Q; CHROMOSOME VARIANT; CLONE; COPY NUMBER VARIATION; EUCHROMATIN; FAMILY; FEMALE; FETUS; FLUORESCENCE IN SITU HYBRIDIZATION; HETEROCHROMATIN; HUMAN; INTERPHASE; KARYOTYPE 46,XX; MALE; MATERNAL AGE; METAPHASE; MOTHER; PHENOTYPE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROMETAPHASE; SEGMENTAL DUPLICATION; CASE REPORT; CHROMOSOME 9; CHROMOSOME DUPLICATION;

ABNORMAL KARYOTYPE; CENTROMERE; CHROMOSOMAL INSTABILITY; CHROMOSOME BANDING; CHROMOSOME DUPLICATION; CHROMOSOMES, ARTIFICIAL, BACTERIAL; CHROMOSOMES, HUMAN, PAIR 9; EUCHROMATIN; FEMALE; HETEROCHROMATIN; HUMANS; INFANT, NEWBORN; METAPHASE; PHENOTYPE; PREGNANCY; PRENATAL DIAGNOSIS;

BACTERIA (MICROORGANISMS);

EID: 84881182229     PISSN: 14248581     EISSN: 1424859X     Source Type: Journal    
DOI: 10.1159/000350870     Document Type: Article

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