4.3-Mb triplication of 4q32.1-q32.2: Report of a family through two generations

American Journal of Medical Genetics, Part A

Volumn 149, Issue 10, 2009, Pages 2274-2279

  Wang, Jia Chi ^a,b,e   Fisker, Thomas ^a   Dang, Linda ^a   Teshima, Ikuko ^c,d   Nowaczyk, Małgorzata J M ^b,e  

^a HAMILTON REGIONAL LABORATORY MEDICINE PROGRAM   (Canada)

^b MCMASTER UNIVERSITY   (Canada)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

^d UNIVERSITY OF TORONTO   (Canada)

^e MCMASTER UNIVERSITY MEDICAL CENTRE   (Canada)

Author keywords

4q32.1 q32.2; Chromosome 4; Duplication; Hirschsprung disease; Triplication

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 4Q; CHROMOSOME ABERRATION; CHROMOSOME DUPLICATION; CHROMOSOME TRIPLICATION; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; COMPUTER ASSISTED TOMOGRAPHY; CONSTIPATION; CRANIOFACIAL MALFORMATION; DEVELOPMENTAL DISORDER; EPILEPSY; FAMILY STUDY; FEMALE; FETUS ECHOGRAPHY; FLUORESCENCE IN SITU HYBRIDIZATION; HIRSCHSPRUNG DISEASE; HUMAN; INFANTILE AUTISM; KARYOTYPE; LEARNING DISORDER; MACROCEPHALY; MALE; MICROTIA; MOTHER; PHENOTYPE; PRIORITY JOURNAL; PROGENY; SPEECH DISORDER; SUPERNUMERARY CHROMOSOME;

ADULT; CHILD; CHILD DEVELOPMENT DISORDERS, PERVASIVE; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 4; CRANIOFACIAL ABNORMALITIES; FAMILY; FAMILY CHARACTERISTICS; FEMALE; GENE DUPLICATION; HUMANS; MALE; MENTAL RETARDATION;

EID: 70349484904     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33020     Document Type: Article

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