A familial case with interstitial 2q36 deletion: Variable phenotypic expression in full and mosaic state

European Journal of Medical Genetics

Volumn 55, Issue 11, 2012, Pages 660-665

  Freitas, Érika L ^a,b   Gribble, Susan M ^c   Simioni, Milena ^a   Vieira, Társis P ^a   Prigmore, Elena ^c   Krepischi, Ana C ^b,d   Rosenberg, Carla ^b   Pearson, Peter L ^b   Melo, Débora G ^e   Gil da Silva Lopes, Vera Lúcia ^a  

^a UNIVERSITY OF CAMPINAS   (Brazil)

^b UNIVERSITY OF SÃO PAULO   (Brazil)

^c WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^d A C CAMARGO CANCER CENTER   (Brazil)

^e FEDERAL UNIVERSITY OF SÃO CARLOS   (Brazil)

Author keywords

2q36 deletion; Array CGH; Midline facial defects with hypertelorism; Mosaicism

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHROMOSOME 2Q; COMPARATIVE GENOMIC HYBRIDIZATION; CRANIOFACIAL MALFORMATION; CYTOGENETICS; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; HAPLOTYPE; HUMAN; MICROARRAY ANALYSIS; MICROSATELLITE MARKER; MIDLINE FACIAL DEFECTS WITH HYPERTELORISM; MOSAICISM; PHENOTYPE; VERTICAL TRANSMISSION;

ABNORMALITIES, MULTIPLE; ADULT; CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 2; FACIES; FEMALE; HAPLOTYPES; HUMANS; HYPERTELORISM; MOSAICISM; MUSCULAR ATROPHY; PEDIGREE; PHENOTYPE;

EID: 84867142581     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2012.06.015     Document Type: Article

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