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Volumn 112, Issue 1, 2002, Pages 23-27
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Subtelomeric FISH uncovers trisomy 14q32: Lessons for imprinted regions, cryptic rearrangements and variant acrocentric short arms
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Author keywords
Acrocentric chromosome; Chromosome 14; Chromosome 22; DLK1; Imprinting; MEG3; P arm variant; Telomere; Telomere FISH; Trisomy 14q; Uniparental disomy
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Indexed keywords
ARTICLE;
CASE REPORT;
CHILD;
CHROMOSOME 14Q;
CHROMOSOME 22;
CHROMOSOME ANALYSIS;
CYTOGENETICS;
FEMALE;
FLUORESCENCE IN SITU HYBRIDIZATION;
GENE EXPRESSION;
GENE SEQUENCE;
GENOME IMPRINTING;
HUMAN;
PHENOTYPE;
PRIORITY JOURNAL;
TELOMERE;
TRISOMY;
TRISOMY 14;
UNIPARENTAL DISOMY;
CHROMOSOME 14;
CHROMOSOME BANDING PATTERN;
GENETICS;
METHODOLOGY;
MULTIPLE MALFORMATION SYNDROME;
PRESCHOOL CHILD;
ABNORMALITIES, MULTIPLE;
CASE REPORT;
CHILD, PRESCHOOL;
CHROMOSOME BANDING;
CHROMOSOMES, HUMAN, PAIR 14;
FEMALE;
GENOMIC IMPRINTING;
HUMAN;
IN SITU HYBRIDIZATION, FLUORESCENCE;
SUPPORT, U.S. GOV'T, P.H.S.;
TELOMERE;
TRISOMY;
HUMANS;
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EID: 0037105005
PISSN: 01487299
EISSN: None
Source Type: Journal
DOI: 10.1002/ajmg.10703 Document Type: Article |
Times cited : (19)
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References (32)
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