Description of the smallest critical region for Dandy-Walker malformation in chromosome 13 in a girl with a cryptic deletion related to t[6;13][q23;q32]

American Journal of Medical Genetics, Part A

Volumn 152, Issue 9, 2010, Pages 2308-2312

  Mademont Soler, Irene ^a   Morales, Carme ^a,b   Armengol, Lluís ^c   Soler, Anna ^a,b,d   Sánchez, Aurora ^a,b,d  

^a HOSPITAL CLÍNIC   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c CENTRE FOR GENOMIC REGULATION CRG   (Spain)

^d INSTITUT D INVESTIGACIONS BIOMÈDIQUES AUGUST PI I SUNYER IDIBAPS   (Spain)

Author keywords

13q deletion; Array CGH; Dandy Walker malformation; ZIC2; ZIC5

Indexed keywords

ADOLESCENT; ARTICLE; CASE REPORT; CHROMOSOME 13Q; CHROMOSOME 6Q; CHROMOSOME BREAKAGE; CHROMOSOME TRANSLOCATION 13; CHROMOSOME TRANSLOCATION 6; COMPARATIVE GENOMIC HYBRIDIZATION; DANDY WALKER SYNDROME; FACE DYSMORPHIA; FEMALE; GENE; GENE DELETION; HEARING LOSS; HUMAN; IRIS COLOBOMA; JOINT LAXITY; KARYOTYPE 46,XX; PHENOTYPE; PRIORITY JOURNAL; ZIC2 GENE; ZIC5 GENE;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CHROMOSOMES, HUMAN, PAIR 13; CHROMOSOMES, HUMAN, PAIR 6; COMPARATIVE GENOMIC HYBRIDIZATION; DANDY-WALKER SYNDROME; FEMALE; HUMANS; NUCLEAR PROTEINS; PHENOTYPE; SEQUENCE DELETION; TRANSCRIPTION FACTORS; TRANSLOCATION, GENETIC;

EID: 77956108797     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33550     Document Type: Article

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