The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: A proposed categorization system

Genetics in Medicine

Volumn 16, Issue 1, 2014, Pages 92-100

  Mikhail, Fady M ^a   Burnside, Rachel D ^b   Rush, Brooke ^b   Ibrahim, Jennifer ^c   Godshalk, Robin ^c   Rutledge, S Lane ^a   Robin, Nathaniel H ^a   Descartes, Maria D ^a   Carroll, Andrew J ^a  

^a UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^b LABORATORY CORPORATION OF AMERICA   (United States)

^c ST JOSEPH S REGIONAL MEDICAL CENTER   (United States)

Author keywords

CNVs; distal 22q11.2 microdeletion; LCR22s; rhabdoid tumors; SMARCB1

Indexed keywords

ADULT; ARTICLE; ATTENTION DEFICIT DISORDER; AUTISM; BIRTH WEIGHT; BRACHYCEPHALY; CHILD; CHROMOSOME DELETION 22Q11; CHROMOSOME DELETION 22Q11.2; CLINICAL ARTICLE; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETICS; DISEASE CLASSIFICATION; FOREHEAD; GENOTYPE; GESTATIONAL AGE; GYNECOMASTIA; HUMAN; HUMAN GENOME; HYPERTELORISM; MACROCEPHALY; MICROCEPHALY; MICROPHTHALMIA; MUSCLE HYPOTONIA; OBESITY; PERIPHERAL LYMPHOCYTE; POSTNATAL GROWTH; PREECLAMPSIA; PREMATURE LABOR; PREMATURITY; PRENATAL GROWTH; SCHOOL CHILD; SEGMENTAL DUPLICATION; TONIC CLONIC SEIZURE; YOUNG ADULT;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; COMPARATIVE GENOMIC HYBRIDIZATION; DIGEORGE SYNDROME; FEMALE; GENETIC VARIATION; HUMANS; MALE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; YOUNG ADULT;

EID: 84893613450     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2013.79     Document Type: Article

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