Diamond-Blackfan anaemia in a girl with a de novo balanced reciprocal X;19 translocation

Journal of Medical Genetics

Volumn 34, Issue 9, 1997, Pages 779-782

  Gustavsson, Peter ^a   Skeppner, Gunnar ^b   Johansson, Bertil ^d   Berg, Torsten ^c   Gordon, Laurie ^e   Kreuger, Anders ^a   Dahl, Niklas ^a  

^a UNIVERSITY CHILDREN S HOSPITAL   (Sweden)

^b ÖREBRO UNIVERSITY HOSPITAL   (Sweden)

^c Västerås County Hospital   (Sweden)

^d LUND UNIVERSITY HOSPITAL   (Sweden)

^e LAWRENCE LIVERMORE NATIONAL LABORATORY   (United States)

Author keywords

Balanced X; 19 translocation; Chromosome band 19q13; Diamond Blackfan anaemia; Fluorescence in situ hybridisation

Indexed keywords

ARTICLE; AUTOSOMAL INHERITANCE; BLACKFAN DIAMOND ANEMIA; BRANCHIOGENIC CYST; CASE REPORT; CHROMOSOME TRANSLOCATION 19; CHROMOSOME TRANSLOCATION X; COSMID; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; KIDNEY HYPOPLASIA; PRIORITY JOURNAL; RECIPROCAL CHROMOSOME TRANSLOCATION; SCHOOL CHILD; SHORT STATURE;

EID: 0030921672     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.34.9.779     Document Type: Article

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