Combined Dup(7)(q22.1q32.2), Inv(7)(q31.31q31.33), and Ins(7;19)(q22.1;p13.2p13.2) in a 12-year-old boy with developmental delay and various dysmorphism

European Journal of Medical Genetics

Volumn 56, Issue 7, 2013, Pages 383-388

  Frühmesser, Anne ^a   Erdel, Martin ^a,b   Duba, Hans Christoph ^a,c   Fauth, Christine ^a   Amberger, Albert ^a   Utermann, Gerd ^a   Zschocke, Johannes ^a   Kotzot, Dieter ^a  

^a INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^b MEDICAL UNIVERSITY OF VIENNA   (Austria)

^c Department of Human Genetics   (Austria)

Author keywords

Complex rearrangement; Duplication; Inversion; SNP array

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME; CHROMOSOME 13P; CHROMOSOME 22Q; CHROMOSOME 32Q; CHROMOSOME DUPLICATION; CHROMOSOME INSERTION; CHROMOSOME INVERSION; DEVELOPMENTAL DELAY; DEVELOPMENTAL DISORDER; FACE DYSMORPHIA; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; KARYOTYPE; MALE; MUSCLE HYPOTONIA; SCHOOL CHILD; SHORT STATURE; SINGLE NUCLEOTIDE POLYMORPHISM; ABNORMALITIES, MULTIPLE; ALU SEQUENCE; CHROMOSOME 19; CHROMOSOME 7; CHROMOSOME ABERRATION; CHROMOSOME BREAKAGE; DEVELOPMENTAL DISABILITIES; GENETICS; HAPLOTYPE;

ABNORMALITIES, MULTIPLE; ALU ELEMENTS; CHILD; CHROMOSOME ABERRATIONS; CHROMOSOME BREAKPOINTS; CHROMOSOMES, HUMAN, PAIR 19; CHROMOSOMES, HUMAN, PAIR 7; DEVELOPMENTAL DISABILITIES; HAPLOTYPES; HUMANS; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84892608987     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2013.04.003     Document Type: Article

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