Molecular cytogenetic analysis of de novo dup(5)(q35.2q35.3) and review of the literature of pure partial trisomy 5q

American Journal of Medical Genetics, Part A

Volumn 140, Issue 14, 2006, Pages 1594-1600

  Chen, Chih Ping ^a,b,c   Lin, Shuan Pei ^a   Lin, Chyi Chyang ^d   Chen, Yann Jang ^b,e   Chern, Schu Rern ^a   Li, Yueh Chun ^f   Hsieh, Lie Jiau ^d   Lee, Chen Chi ^a   Pan, Chen Wen ^a   Wang, Wayseen ^a  

^a MACKAY MEMORIAL HOSPITAL   (Taiwan)

^b NATIONAL YANG MING UNIVERSITY   (Taiwan)

^c CHINA MEDICAL UNIVERSITY   (Taiwan)

^d CHINA MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^e TAIPEI VETERANS GENERAL HOSPITAL   (Taiwan)

^f CHUNG SHAN MEDICAL UNIVERSITY   (Taiwan)

Author keywords

Chromosome 5q; Duplication; NKX2 5 gene; NSD1 gene; Partial trisomy 5q

Indexed keywords

ARTICLE; BONE AGE; BRACHYDACTYLY; CASE REPORT; CHROMOSOME 5Q; CHROMOSOME DUPLICATION; CHROMOSOME MAP; CONGENITAL HEART DISEASE; CYTOGENETICS; FACE DYSMORPHIA; FEMALE; GENE; GENE DELETION; GENE DOSAGE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INGUINAL HERNIA; KARYOTYPE; MACROCEPHALY; MEDICAL LITERATURE; MENTAL DEFICIENCY; MICROCEPHALY; MOTOR RETARDATION; NKX2 5 GENE; NSD1 GENE; PARTIAL TRISOMY; PARTIAL TRISOMY 5; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; SHORT STATURE; SOTOS SYNDROME; STRABISMUS;

ABNORMALITIES, MULTIPLE; ANEUPLOIDY; CHILD; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 5; FEMALE; GENE DOSAGE; GROWTH DISORDERS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MENTAL RETARDATION; MICROCEPHALY; PHENOTYPE; POLYMERASE CHAIN REACTION;

EID: 33745621356     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31329     Document Type: Article

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