Chromosome rearrangements in Cornelia de Lange Syndrome (CdLS): Report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements

American Journal of Medical Genetics

Volumn 137 A, Issue 3, 2005, Pages 276-282

  DeScipio, Cheryl ^a   Kaur, Maninder ^a   Yaeger, Dinah ^a   Innis, Jeffrey W ^b   Spinner, Nancy B ^a   Jackson, Laird G ^c   Krantz, Ian D ^a,d  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b UNIVERSITY OF MICHIGAN   (United States)

^c DREXEL UNIVERSITY COLLEGE OF MEDICINE   (United States)

^d CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

12p13.3; 3p25.3; Array CGH; Cornelia de Lange Syndrome

Indexed keywords

CASE REPORT; CHROMOSOME 12P; CHROMOSOME 3P; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME MAP; CHROMOSOME REARRANGEMENT; CLINICAL FEATURE; COGNITIVE DEFECT; COMPARATIVE GENOMIC HYBRIDIZATION; DE LANGE SYNDROME; DOMINANT INHERITANCE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE MUTATION; HUMAN; LIMB DEFECT; MALE; NIPBL GENE; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SCHOOL CHILD; SIBLING;

CHILD; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 12; CHROMOSOMES, HUMAN, PAIR 3; DE LANGE SYNDROME; FEMALE; GENOME, HUMAN; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MALE; NUCLEIC ACID HYBRIDIZATION; SIBLINGS; TRANSLOCATION, GENETIC;

EID: 24344479481     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30857     Document Type: Review

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