Segregation of a 4p16.3 duplication with a characteristic appearance, macrocephaly, speech delay and mild intellectual disability in a 3-generation family

American Journal of Medical Genetics, Part A

Volumn 161, Issue 9, 2013, Pages 2358-2362

  Schönewolf Greulich, Bitten ^a   Ravn, Kirstine ^a   Hamborg Petersen, Bente ^b   Brøndum Nielsen, Karen ^a   Tümer, Zeynep ^a  

^a Rigshospitalet   (Denmark)

^b Klinisk Mikrobiologisk Afdeling   (Denmark)

Author keywords

Duplication 4p16.3; Familial unbalanced chromosome aberration; Intellectual disability; Speech delay; Syndrome

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 4P; CHROMOSOME 4P16.3; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; CLINICAL FEATURE; FAMILY HISTORY; FEMALE; GENETIC COUNSELING; HUMAN; INTELLECTUAL IMPAIRMENT; MACROCEPHALY; MALE; MICROARRAY ANALYSIS; PHENOTYPE; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SPEECH DELAY; TALL STATURE;

DUPLICATION 4P16.3; FAMILIAL UNBALANCED CHROMOSOME ABERRATION; INTELLECTUAL DISABILITY; SPEECH DELAY; SYNDROME;

CHILD; CHROMOSOME DUPLICATION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 4; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INTELLECTUAL DISABILITY; LANGUAGE DEVELOPMENT DISORDERS; MACROCEPHALY; NONDISJUNCTION, GENETIC; PEDIGREE; PHENOTYPE;

EID: 84881661362     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36099     Document Type: Article

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