Microduplication of 4p16.3 due to an unbalanced translocation resulting in a mild phenotype

American Journal of Medical Genetics, Part A

Volumn 155, Issue 4, 2011, Pages 819-824

  Carmany, Erin P ^a   Bawle, Erawati V ^a  

^a CHILDREN'S HOSPITAL OF MICHIGAN   (United States)

Author keywords

Chromosome duplication; Chromosomes; Genetic; Human; Microarray analysis; Pair 4; Translocation; Wolf Hirschhorn syndrome

Indexed keywords

OLIGONUCLEOTIDE;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 17Q; CHROMOSOME 4P; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME TRANSLOCATION; COMPARATIVE GENOMIC HYBRIDIZATION; EXTRACHROMOSOMAL INHERITANCE; FAMILY HISTORY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN CELL; HYPERTELORISM; INTELLECTUAL IMPAIRMENT; INTELLIGENCE QUOTIENT; LANGUAGE DISABILITY; MICROARRAY ANALYSIS; MICROSCOPY; PARTIAL TRISOMY 4; PHENOTYPE; PHYSICAL EXAMINATION; POLYDIPSIA; POLYURIA; PRESCHOOL CHILD; PRIORITY JOURNAL; SEIZURE; SHORT STATURE; SPEECH DISORDER; URGE INCONTINENCE;

CHILD, PRESCHOOL; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 4; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; HUMANS; HYPERTELORISM; IN SITU HYBRIDIZATION, FLUORESCENCE; PHENOTYPE; TRANSLOCATION, GENETIC;

EID: 79953319580     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33916     Document Type: Article

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