A chromosomal deletion map of human malformations

American Journal of Human Genetics

Volumn 63, Issue 4, 1998, Pages 1153-1159

  Brewer, Carole ^a   Holloway, Susan ^a   Zawalnyski, Paul ^a   Schinzel, Albert ^b   Fitzpatrick, David ^a  

^a WESTERN GENERAL HOSPITAL   (United Kingdom)

^b UNIVERSITY OF ZURICH   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOME; CHROMOSOME DELETION; CHROMOSOME MAP; CONGENITAL MALFORMATION; CYTOGENETICS; GENE LOCUS; GENETIC ANALYSIS; HAPLOIDY; HUMAN; PATHOGENESIS; PRIORITY JOURNAL;

EID: 0032231333     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302041     Document Type: Article

References (29)

1. Ballabio A (1991) Contiguous deletion syndromes. Curr Opin Genet Dev 1:25-9
2. Chung CS, Myrianthopoulos NC (1968) Racial and prenatal factors in major congenital malformations. Am J Hum Genet 20:44-60
3. Epstein CJ (1993) The conceptual bases for the phenotypic mapping of conditions resulting from aneuploidy. Prog Clin Biol Res 384:1-18
4. Ferguson-Smith MA, Aitken DA (1982) The contribution of chromosome aberrations to the precision of human gene mapping. Cytogenet Cell Genet 32:24-42
5. FitzPatrick DR, Skeoch CH, Tolmie JL (1991) Genetic aspects of paediatric intensive care unit admissions. Arch Dis Child 66:639-641
6. Hall JG, Powers EK, McIlvaine RT, Ean VH (1978) The frequency and financial burden of genetic disease in a paediatric hospital. Am J Med Genet 1:417-436
7. Hecht F, Hecht BK (1987) Aneuploidy in humans: dimensions, demography and dangers of abnormal numbers of chromosomes. In: Aneuploidy: incidence and etiology. Alan R. Liss, New York, pp 9-49
8. Hogue CJ, Strauss LT, Buehler JW, Smith JC (1989) Overview of the National Infant Mortality Surveillance (NIMS) project. MMWR CDC Surveill Summ 38:1-46
9. Hrubec Z, Robinette D (1984) The study of human twins in medical research. N Engl J Med 310:435-441
10. Jacobs PA, Browne C, Gregson N, Joyce C, White H (1992) Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding. J Med Genet 29:103-108
11. Jordan T, Hanson I, Zaletayev D, Hodgson S, Prosser J, Sea- wright A, Hastie N, et al (1992) The human PAX6 gene is mutated in two patients with aniridia. Nat Genet 1:328-332
12. Kalter H, Warkany J (1983) Medical progress. Congenital malformations: etiologic factors and their role in prevention. N Engl J Med 308:491-497
13. Khoury MJ, Beaty TH, Liang KY (1988) Can familial aggregation of disease be explained by familial aggregation of environmental risk factors? Am J Epidemiol 127:674-683
14. Lewandowski RC, Yunis JR, Tunis JJ (1977) Phenotypic mapping in man. In: JJ Yunis (ed) New chromosomal syndromes. Academic Press, pp 369-394
15. Lindsley DL, Sandier L, Baker BS, Carpenter AT, Denell RE, Hall JC, Jacobs PA (1972) Segmental aneuploidy and the genetic gross structure of the drosophila genome. Genetics 71:157-184
16. Lurie IW (1993) Autosomal imbalance syndromes: Genetic interactions and the origins of congenital malformations in aneuploidy syndromes. Am J Med Genet 47:410-416
17. Lynch SA, Bond PM, Copp AJ, Kirwan WO, Nour S, Balling R, Mariman E (1995) A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36. Nat Genet 11:93-95
18. Mittelman F (ed) (1995) ISCN: an international system for human cytogenetic nomenclature. Karger, Basel
19. Muenke M, Gurrieri F, Bay C, Yi DH, Collins AL, Johnson VP, Hennekam RC (1994) Linkage of a human brain mal formation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity. Proc Natl Acad Sci USA 91:8102-8106
20. Ringwald M, Baldock R, Bard J, Kaufman M, Eppig JT, Richardson JE, Nadeau JH (1994) A database for mouse development. Science 265:2033-2034
21. Risch N, Merikangas K (1996) The future of genetic studies of complex human diseases. Science 273:1516-1517
22. Roessler E, Belloni E, Gaudenz K, Jay P, Berta P, Scherer SW, Tsui L-C (1996) Mutations in the human sonic hedgehog gene cause holoprosencephaly. Nat Genet 14:357-360
23. Schedl A, Ross A, Lee M, Engelkamp D, Rashbass P, van Heyningen V, Hastie ND (1996) Influence of PAX6 gene dosage on development: overexpression causes severe eye abnormalities. Cell 86:71-82
24. Schinzel A (1994) Human cytogenetics database. Oxford University Press, Oxford
25. Schuler GD, Boguski MS, Stewart EA, Stein LD, Gyapay G, Rice K, White RE (1996) A gene map of the human genome. Science 274:540-546
26. Tommerup N, van der Hagen CB, Heiberg A (1992) Tentative assignment of a locus for Rubinstein-Taybi syndrome to 16p13.3 by a de novo reciprocal translocation, t(7;16) (q34;p13.3). Am J Med Genet 44:237-241
27. Vasarhelyi K, Friedman JM (1989) Analysing rearrangement breakpoint distributions by means of binomial confidence intervals. Ann Hum Genet 53:375-380
28. Wilkie AO (1994) The molecular basis of genetic dominance. J Med Genet 31:89-98
29. Yun Y, Bergstrom R, Klemm M, Lederman B, Nelson H, Ticknor C, Jaenisch R, et al (1997) Chromosomal deletion complexes in mice by radiation of embryonic stem cells. Nat Genet 15:285-288