Reversed clinical phenotype due to a microduplication of Sotos syndrome region detected by array CGH: Microcephaly, developmental delay and delayed bone age

American Journal of Medical Genetics, Part A

Volumn 155, Issue 6, 2011, Pages 1374-1378

  Zhang, Han ^a,b   Lu, Xianglan ^a   Beasley, Julie ^a   Mulvihill, John J ^a   Liu, Ruizhi ^b   Li, Shibo ^a   Lee, Ji Yun ^a  

^a UNIVERSITY OF OKLAHOMA COLLEGE OF MEDICINE   (United States)

^b THE FIRST HOSPITAL OF JILIN UNIVERSITY   (China)

Author keywords

5q35; Array CGH; Duplication; FISH; NSD1; Sotos syndrome

Indexed keywords

ARTICLE; BONE AGE; CASE REPORT; CHILD; CHROMOSOME 5Q; CHROMOSOME DELETION 5; CHROMOSOME DUPLICATION; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISORDER; FACE DYSMORPHIA; FAILURE TO THRIVE; GENE; GENE DOSAGE; GENE MUTATION; HAPLOINSUFFICIENCY; HUMAN; KARYOTYPE 46,XY; LEARNING DISORDER; MALE; MICROCEPHALY; NSD1 GENE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SEIZURE; SOTOS SYNDROME;

CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 5; COMPARATIVE GENOMIC HYBRIDIZATION; GENE DOSAGE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; NUCLEAR PROTEINS; PHENOTYPE; SOTOS SYNDROME;

EID: 79956223037     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33769     Document Type: Article

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