Inverted duplication with terminal deletion of 5p and no cat-like cry

American Journal of Medical Genetics, Part A

Volumn 146, Issue 9, 2008, Pages 1173-1179

  Wang, Jia Chi ^a,b,g   Coe, Bradley P ^c   Lomax, Brenda ^d   MacLeod, Patrick M ^e   Parslow, Malcolm I ^e   Schein, Jacqueline E ^f   Lam, Wan L ^c   Eydoux, Patrice ^d  

^a HAMILTON REGIONAL LABORATORY MEDICINE PROGRAM   (Canada)

^b MCMASTER UNIVERSITY   (Canada)

^c BRITISH COLUMBIA CANCER RESEARCH CENTRE   (Canada)

^d CHILDREN S AND WOMEN S HEALTH CENTRE OF BRITISH COLUMBIA   (Canada)

^e VICTORIA GENERAL HOSPITAL   (Canada)

^f BRITISH COLUMBIA CANCER AGENCY   (Canada)

^g MCMASTER UNIVERSITY MEDICAL CENTRE   (Canada)

Author keywords

Cat like cry; Chromosome 5p; Critical region; Inverted duplications with terminal deletion (inv dup del)

Indexed keywords

ARTICLE; BACTERIAL ARTIFICIAL CHROMOSOME; CASE REPORT; CAT CRY SYNDROME; CHROMOSOME 5P; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME INVERSION; CHROMOSOME MAP; CHROMOSOME REARRANGEMENT; CLINICAL ASSESSMENT; CYTOGENETICS; DEVELOPMENTAL DISORDER; FAILURE TO THRIVE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; KARYOTYPING; MALE; MICROARRAY ANALYSIS; MUSCLE HYPOTONIA; PRESCHOOL CHILD; PRIORITY JOURNAL; SEIZURE; SUB MEGABASE RESOLUTION TILING SET ARRAY;

CHILD; CHROMOSOME ABERRATIONS; CHROMOSOME DELETION; CHROMOSOMES, ARTIFICIAL, BACTERIAL; CHROMOSOMES, HUMAN, PAIR 5; CRANIOFACIAL ABNORMALITIES; CRI-DU-CHAT SYNDROME; DEVELOPMENTAL DISABILITIES; GENOTYPE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INVERSION, CHROMOSOME; KARYOTYPING; MALE; PHENOTYPE;

EID: 43049150740     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32246     Document Type: Article

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