Mirror duplication of chromosome 21 with complete phenotype of Down syndrome

Pediatrics International

Volumn 50, Issue 4, 2008, Pages 597-599

  Egashira, Masanori ^a   Kondoh, Tatsuro ^a   Kawara, Hiroki ^b   Motomura, Hideki ^a   Tagawa, Masato ^a   Harada, Naoki ^b,c   Moriuchi, Hiroyuki ^a  

^a NAGASAKI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b NAGASAKI UNIVERSITY GRADUATE SCHOOL OF BIOMEDICAL SCIENCES   (Japan)

^c JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

Author keywords

Down syndrome; FISH analysis; Mirror duplication; Pseudo isodicentric chromosome

Indexed keywords

DIURETIC AGENT;

ARTICLE; CASE REPORT; CHROMOSOME 21; CHROMOSOME DUPLICATION; CHROMOSOME MAP; DOWN SYNDROME; FALLOT TETRALOGY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HEART ATRIUM SEPTUM DEFECT; HEART MURMUR; HEART VALVE STENOSIS; HUMAN; HYPERBILIRUBINEMIA; JAPAN; KARYOTYPE 46,XX; MIRROR CHROMOSOME 21 DUPLICATION; PHENOTYPE; PHOTOTHERAPY; PRESCHOOL CHILD; PRIORITY JOURNAL;

ADULT; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 21; DOWN SYNDROME; FEMALE; HUMANS; MALE; PHENOTYPE;

EID: 50249085428     PISSN: 13288067     EISSN: 1442200X     Source Type: Journal    
DOI: 10.1111/j.1442-200X.2008.02680.x     Document Type: Article

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