A woman with 46,XX,dup(16)(p13.11 p13.3) and the ATR-X phenotype

American Journal of Medical Genetics

Volumn 132 A, Issue 4, 2005, Pages 414-418

  Akahoshi, Keiko ^a,g   Ohashi, Hirohumi ^b,c   Hattori, Yukio ^d   Saitoh, Shinji ^e   Fukushima, Yoshimitsu ^c,f   Wada, Takahito ^f  

^a Tokyo Children's Rehab Hospital   (Japan)

^b SAITAMA CHILDREN'S MEDICAL CENTER   (Japan)

^c JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

^d YAMAGUCHI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^e HOKKAIDO UNIVERSITY   (Japan)

^f SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^g Tokyo Children's Rehab Hospital   (Japan)

Author keywords

thalassemia retardation syndrome; 16p duplication; ATR 16; ATR X

Indexed keywords

ALPHA GLOBIN;

ADULT; ALPHA THALASSEMIA; ARTICLE; CASE REPORT; CHROMOSOME 16P; CHROMOSOME ANALYSIS; CHROMOSOME BANDING PATTERN; CHROMOSOME DUPLICATION; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; FACIES; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE CONTROL; GENE MUTATION; GENE TARGETING; HUMAN; KARYOTYPE 46,XX; KARYOTYPING; MENTAL RETARDATION MALFORMATION SYNDROME; PHENOTYPE; PRIORITY JOURNAL; X CHROMOSOME; X CHROMOSOME LINKED DISORDER;

ADULT; ALPHA-THALASSEMIA; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 16; FEMALE; GENE DUPLICATION; GENETIC DISEASES, X-LINKED; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MENTAL RETARDATION; PHENOTYPE;

EID: 12944329899     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30480     Document Type: Article

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