Atypical copy number abnormalities in 22q11.2 region: Report of three cases

European Journal of Medical Genetics

Volumn 56, Issue 9, 2013, Pages 515-520

  Molck, Miriam Coelho ^a   Vieira, Társis Paiva ^a   Sgardioli, Ilária Cristina ^a   Simioni, Milena ^a   dos Santos, Ana Paula ^a   Souza, Josiane ^b   Monteiro, Fabíola Paoli ^a   Gil da Silva Lopes, Vera Lúcia ^a  

^a UNIVERSITY OF CAMPINAS   (Brazil)

^b Assistance Center for Cleft Lip and Palate CAIF   (Brazil)

Author keywords

22q11.2 deletion; Array genomic Hybridization; Atypical copy number abnormalities; Distal 22q11.2 deletion; Genotype phenotype correlation; Multiplex ligation dependent probe amplification

Indexed keywords

AGITATION; ARTICLE; ATTENTION DEFICIT DISORDER; BEHAVIOR DISORDER; BIRTH WEIGHT; BODY HEIGHT; CASE REPORT; CHILD; CHROMOSOME BANDING PATTERN; CHROMOSOME DELETION 22Q11; CLEFT LIP; CLEFT PALATE; CLINODACTYLY; CONDUCTION DEAFNESS; CONSTIPATION; DEVELOPMENTAL DISORDER; EYE MALFORMATION; FACE DYSMORPHIA; FEEDING DIFFICULTY; FEMALE; FUNNEL CHEST; HEAD CIRCUMFERENCE; HEART VENTRICLE SEPTUM DEFECT; HUMAN; HYPOCALCEMIA; LONG PHILTRUM; MALE; OTITIS; PATENT FORAMEN OVALE; PRESCHOOL CHILD; RECURRENT INFECTION; SCHOOL CHILD; SHORT STATURE; SPEECH DISORDER; STRABISMUS;

22Q11.2 DELETION; ARRAY GENOMIC HYBRIDIZATION; ATYPICAL COPY NUMBER ABNORMALITIES; DISTAL 22Q11.2 DELETION; GENOTYPE-PHENOTYPE CORRELATION; MULTIPLEX-LIGATION DEPENDENT PROBE AMPLIFICATION;

22Q11 DELETION SYNDROME; CHILD; CHILD, PRESCHOOL; CHROMOSOME BREAKPOINTS; CHROMOSOME DELETION; FEMALE; GENETIC HETEROGENEITY; HUMANS; MALE; PHENOTYPE; SEGMENTAL DUPLICATIONS, GENOMIC;

EID: 84884204052     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2013.07.002     Document Type: Article

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