De novo duplication of 18p11.21-18q12.1 in a female with anorectal malformation

American Journal of Medical Genetics, Part A

Volumn 155, Issue 2, 2011, Pages 445-449

  Schramm, Charlotte ^a   Draaken, Markus ^a   Bartels, Enrika ^a   Boemers, Thomas M ^b   Schmiedeke, Eberhard ^c   Grasshoff Derr, Sabine ^d   Märzheuser, Stefanie ^e   Hosie, Stuart ^f   Holland Cunz, Stefan ^g   Baudisch, Friederike ^a   Priebe, Lutz ^a   Hoffmann, Per ^a   Zink, Alexander M ^a   Engels, Hartmut ^a   Brockschmidt, Felix F ^a   Aretz, Stefan ^a   Nöthen, Markus M ^a   Ludwig, Michael ^a   Reutter, Heiko ^a  

^a UNIVERSITY OF BONN   (Germany)

^b Children's Hospital   (Germany)

^c Hospital Bremen Mitte   (Germany)

^d UNIVERSITY HOSPITAL WÜRZBURG   (Germany)

^e CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^f TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^g UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ANUS ATRESIA; CASE REPORT; CHILD; CHROMOSOME 18P; CHROMOSOME BREAKAGE; CHROMOSOME DUPLICATION; CHROMOSOME DUPLICATION 18; COLOSTOMY; COPY NUMBER VARIATION; FACE DYSMORPHIA; FEMALE; HAPLOTYPE; HUMAN; KARYOTYPE 46,XX; KARYOTYPING; LETTER; MUSCLE HYPOTONIA; MYOPIA; NEWBORN; PATENT DUCTUS ARTERIOSUS; PRESCHOOL CHILD; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; TRISOMY 18;

ANUS, IMPERFORATE; CHILD; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 18; FEMALE; GENOTYPE; HUMANS; KARYOTYPING; MALE; MUTATION; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 79251513635     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33820     Document Type: Letter

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