Autozygosity mapping, to chromosome 11q25, of a rare autosomal recessive syndrome causing histiocytosis, joint contractures, and sensorineural deafness

American Journal of Human Genetics

Volumn 62, Issue 5, 1998, Pages 1123-1128

  Moynihan, Leanne M ^a   Bundey, Sarah E ^c   Heath, David ^e   Jones, E Lynn ^d   McHale, Duncan P ^a,b   Mueller, Robert F ^b   Markham, Alexander F ^a   Lench, Nicholas J ^a,b  

^a UNIVERSITY OF LEEDS   (United Kingdom)

^b ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^c BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^d UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^e QUEEN ELIZABETH HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; CHROMOSOME 11Q; CONSANGUINITY; FEMALE; GENETIC LINKAGE; HISTIOCYTOSIS; HUMAN; JOINT CONTRACTURE; MALE; PAKISTAN; PATHOGENESIS; PEDIGREE ANALYSIS; PERCEPTION DEAFNESS; PRIORITY JOURNAL; SYNDROME;

EID: 0031971651     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301824     Document Type: Article

References (15)

1. Cline MJ (1994) Histiocytes and histiocytosis. Blood 84: 2840-2853
2. Codling BW, Soni KC, Barry DR, Martin-Walker W (1972) Histiocytosis presenting as swelling of orbit and eyelid. Br J Ophthalmol 56:517-530
3. Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, et al (1996) A comprehensive map of the human genome based on 5,264 microsatellites. Nature 380: 152-154
4. Egeler RM, D'Angio GJ (1995) Langerhans cell histiocytosis. J Pediatr 127:1-11
5. Jacobsen P, Hauge M, Henningen K (1973) An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring: a clinical, cytogenetical, and gene marker study. Hum Hered 23:368-385
6. Kruglyak L, Daly MJ, Lander ES (1995) Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping. Am J Hum Genet 56: 519-527
7. Murray JC, Buetow KH, Weber JL, Ludwigsen S, Scherpbier-Heddema T, Manion F, Quillen J, et al (1994) A comprehensive human linkage map with centimorgan density. Science 265:2049-2054
8. Ott J (1974) Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies. Am J Hum Genet 26:773-775
9. Pivnick EK, Velagaleti GVN, Wilroy RS, Smith ME, Rose SR, Tipton RE, Tharapel AT (1996) Jacobsen syndrome: report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11(q23-q25) and review of 52 cases. J Med Genet 33: 772-778
10. Pritchard J, Broadbent V (1994) Histiocytosis: an introduction. Br J Cancer Suppl 70 23:S1-S3
11. Reed PW, Davies JL, Copeman JB, Bennett SB, Palmer SM, Pritchard LE, Gough SCL, et al (1994) Chromosome-specific microsatellite sets for fluorescence-based, semiautomated genome mapping. Nat Genet 7:390-395
12. Rosai J, Dorfman RF (1995) Sinus histiocytosis with massive lymphadenopathy: a newly recognized benign clinicopathological entity. Arch Pathol 87:63-70
13. Schuler GD, Boguski MS, Hudson TJ, Hui L, Ma J, Castle AB, Wu X, et al (1996) A gene map of the human genome. Science 274:540-546
14. Watkins WS, Zenger R, O'Brien E, Nyman D, Eriksson AW, Renlund M, Jorde LB (1994) Linkage disequilibrium patterns vary with chromosomal location: a case study from the von Willebrand factor region. Am J Hum Genet 55: 348-355
15. Writing Group of the Histiocyte Society, The (1987) Histiocytosis syndromes in children. Lancet 1:208-209