A complex maternal rearrangement results in a pure 10.8 Mb duplication of the 5q13.1-q14.1 region in an affected son

American Journal of Medical Genetics, Part A

Volumn 152, Issue 2, 2010, Pages 498-503

  Zou, Ying S ^a   Newton, Stephanie ^a   Milunsky, Jeff M ^a  

^a BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; CHILD; CHROMOSOME 5Q; CHROMOSOME DUPLICATION; CHROMOSOME REARRANGEMENT; CLINICAL FEATURE; FAMILY HISTORY; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; KARYOTYPE 46,XY; LETTER; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

CHROMOSOMES, HUMAN, PAIR 5; FEMALE; GENE DUPLICATION; GENE REARRANGEMENT; GENOTYPE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; KARYOTYPING; MALE; MODELS, GENETIC; MOTHERS; MUTATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; TRANSLOCATION, GENETIC;

EID: 75449102169     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33266     Document Type: Letter

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