Inherited mosaicism for the supernumerary marker chromosome in cat eye syndrome: Inter- and intra-individual variation and correlation to the phenotype

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 5, 2012, Pages 1111-1117

  Kvarnung, Malin ^a   Lindstrand, Anna ^a   Malmgren, Helena ^a   Thåström, Anders ^b   Jacobson, Lena ^a   Dahl, Niklas ^c   Lundin, Johanna ^a   Blennow, Elisabeth ^a  

^a KAROLINSKA INSTITUTE   (Sweden)

^b Vastervik Hospital   (Sweden)

^c UNIVERSITY CHILDREN S HOSPITAL   (Sweden)

Author keywords

Array CGH; Cat eye syndrome; Chromosome 22; Familial; Fluorescence in situ hybridization; Mosaicism; Supernumerary marker chromosome

Indexed keywords

ANUS ATRESIA; AORTA ARCH INTERRUPTION; APGAR SCORE; ARTICLE; BICUSPID AORTIC VALVE; BLOOD CELL; CASE REPORT; CAT EYE SYNDROME; CHILD; CHROMOSOME 22Q; CHROMOSOME ANALYSIS; CHROMOSOME MOSAICISM; CHROMOSOME MUTATION; COLOSTOMY; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL MALFORMATION; CONTROLLED STUDY; EAR MALFORMATION; ECHOCARDIOGRAPHY; EPITHELIUM CELL; EYE EXAMINATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC ASSOCIATION; HEART VENTRICLE SEPTUM DEFECT; HUMAN; HUMAN CELL; IRIS COLOBOMA; KARYOTYPING; MALE; PEDIGREE ANALYSIS; PHENOTYPIC VARIATION; POLYMERASE CHAIN REACTION; PREAURICULAR PITS; PRESCHOOL CHILD; PRIORITY JOURNAL; RECURRENCE RISK; SPERMATOZOON; SUPERNUMERARY CHROMOSOME;

ANEUPLOIDY; CHILD; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 22; FAMILY; GENETIC MARKERS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MOSAICISM; PHENOTYPE; SPERMATOZOA;

EID: 84860015613     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35311     Document Type: Article

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