Bronchiectasis and immune deficiency in an adult patient with deletion 2q37 due to an unbalanced translocation t(2;10)

European Journal of Medical Genetics

Volumn 52, Issue 4, 2009, Pages 260-261

  Balikova, Irina ^a   Robert Vermeesch, Joris ^a   Fryns, Jean Pierre ^a   Van Esch, Hilde ^a  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

Behavioral problems; Bronchiectasis; Deletion 2q37; Duplication 10q26; Immune deficiency; Mental retardation; PDCD1; Short 4th and 5th metacarpals

Indexed keywords

ANTIBIOTIC AGENT; IMMUNOGLOBULIN G;

ADULT; ARTICLE; AUTOMUTILATION; BRACHYCEPHALY; BRONCHIECTASIS; BRONCHITIS; CASE REPORT; CHROMOSOME 2Q; CHROMOSOME DELETION; CHROMOSOME TRANSLOCATION; FEMALE; GASTROESOPHAGEAL REFLUX; HIP DISLOCATION; HOSPITALIZATION; HUMAN; IMMUNE DEFICIENCY; IMMUNOLOGY; LUNG BIOPSY; MENTAL DEFICIENCY; MYOPIA; PNEUMONIA; TELANGIECTASIA; VIRUS ENCEPHALITIS;

ABNORMALITIES, MULTIPLE; ADULT; BELGIUM; BRONCHIECTASIS; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 10; CHROMOSOMES, HUMAN, PAIR 2; FEMALE; GENE DUPLICATION; HETEROZYGOTE; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; PHYSICAL CHROMOSOME MAPPING; TRANSLOCATION, GENETIC;

EID: 67650602995     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2009.01.001     Document Type: Article

References (6)

1. Balikova I., Menten B., de Ravel T., Le Caignec C., Thienpont B., Urbina M., Doco-Fenzy M., de Rademaeker M., Mortier G., Kooy F., et al. Subtelomeric imbalances in phenotypically normal individuals. Hum. Mutat. 28 (2007) 958-967
2. Devriendt K., Matthijs G., Holvoet M., Schoenmakers E., and Fryns J.P. Triplication of distal chromosome 10q. J. Med. Genet. 36 (1999) 242-245
3. Falk R.E., and Casas K.A. Chromosome 2q37 deletion: clinical and molecular aspects. Am. J. Med. Genet. C Semin. Med. Genet. 145C (2007) 357-371
4. Ishida Y., Agata Y., Shibahara K., and Honjo T. Induced expression of PD-1, a novel member of the immunoglobulin gene superfamily, upon programmed cell death. EMBO J. 11 (1992) 3887-3895
5. Prokunina L., Castillejo-López C., Oberg F., Gunnarsson I., Berg L., Magnusson V., Brookes A.J., Tentler D., Kristjansdóttir H., Gröndal G., et al. A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans. Nat. Genet. 32 (2002) 666-669
6. Stoll C., and Roth M.P. Familial trisomy 10q (author's transl). Arch. Fr. Pediatr. 38 (1981) 273-274