3q29 Interstitial microduplication: A new syndrome in a three-generation family

American Journal of Medical Genetics, Part A

Volumn 146, Issue 5, 2008, Pages 601-609

  Lisi, Emily C ^a   Hamosh, Ada ^a   Doheny, Kimberly F ^a   Squibb, Elizabeth ^b   Jackson, Barbara ^b   Galczynski, Rebecca ^b   Thomas, George H ^a,b,c   Batista, Denise A S ^b,c,d  

^a JOHNS HOPKINS UNIVERSITY   (United States)

^b KENNEDY KRIEGER INSTITUTE   (United States)

^c JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d JOHNS HOPKINS UNIVERSITY   (United States)

Author keywords

Array CGH; Deletion 3q29; Duplication 3q29; Mental retardation; Microcephaly; SNP

Indexed keywords

ADULT; ARTICLE; CHROMOSOME 3Q; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; CLINICAL ARTICLE; FEMALE; HOMOLOGOUS RECOMBINATION; HUMAN; INFANT; MALE; MENTAL DEFICIENCY; MICROCEPHALY; PRIORITY JOURNAL; SYNDROME DELINEATION; CASE REPORT; CHROMOSOME 3; CHROMOSOME DISORDER; FAMILY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DUPLICATION; GENETICS; MIDDLE AGED; PEDIGREE; SINGLE NUCLEOTIDE POLYMORPHISM; SYNDROME;

ADULT; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 3; FAMILY; FEMALE; GENE DUPLICATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; MALE; MENTAL RETARDATION; MICROCEPHALY; MIDDLE AGED; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; SYNDROME;

EID: 43049135929     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32190     Document Type: Article

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