Down's syndrome in Kuwait: Recurrent familial trisomy 21 in sibs

Medical Principles and Practice

Volumn 8, Issue 2, 1999, Pages 156-163

  Al Awadi, S A ^a   Naguib, K K ^a,b   Bastaki, L ^a   Gouda, S ^a   Mohammed, F M ^a   Abulhasan, S J ^a   Al Ateeqi, W A ^a   Krishna Murthy, D S ^a  

^a AL SABAH HOSPITAL   (Kuwait)

^b NONE   (Kuwait)

Author keywords

Consanguinity; Down's syndrome; Non disjunction mosaicism; Trisomy 21

Indexed keywords

ANEUPLOIDY; ARTICLE; CASE REPORT; CYTOGENETICS; DOWN SYNDROME; FAMILIAL DISEASE; FEMALE; GENETIC PREDISPOSITION; HUMAN; INFANT; MALE; NEWBORN; RECURRENCE RISK; SEX CHROMOSOME MOSAICISM; SIBLING; TRISOMY 21;

EID: 0032904497     PISSN: 10117571     EISSN: None     Source Type: Journal    
DOI: 10.1159/000026086     Document Type: Article

References (46)

1. McKusick VA: Mendelian Inheritance in Man: A Catalogue of Human Genetics and Genetic Disorders, ed 11. Baltimore, Johns Hopkins University Press, 1994, vol II, MIM-158250; MIM-190685; MIM-257300.
2. Hook E, Cross P, Schrenemacheis D: Chromosomal abnormalities at amniocentesis and in liveborn infants. JAMA 1983;249:2034-2038.
3. Mikkelsen M: Down syndrome. Hum Genet 1971;121:1-28.
4. Mikkelsen M, Stene J: Previous child with Down syndrome and other chromosome aberration: Group report; in Murken JD, Stengel-Rukowski S, Schwinger E: Prenatal Diagnosis of Genetic Disorders. Stuttgart, Enke, 1989, pp 22-29.
5. Harries D, Beyleiter M, Chamberlin J, Hankins L, Mogenis R: Parental trisomy 21 mosaicism. Am J Hum Genet 1982;34:125-133.
6. Parke J, Gross F, Pixley R, Deal J: Trisomy 21 mosaicism in two successive generations in a family. J Med Genet 1980;17:48-49.
7. Richards B: Investigation of 142 mosaic mongols and mosaic parents of mongols: Cytogenetic analysis and maternal age at birth. J Ment Defic Res 1974;18:199-208.
8. Sachs E, Joshoda M, Los F, Pijpien H, Wladmiroff J: Trisomy 21 mosaicism in the gonads with unexpected high recurrence risk. Am J Med Genet Suppl 1990;7:186-188.
9. Tuck C, Bennet J, Vamla M: Down's syndrome and familial aneuploidy; in Berg JM (ed): Perspectives and Progress in Mentally Retarded, ed 2. Baltimore, University Park Press, 1984, pp 167-180.
10. Alfi OS, Chang R, Azen SP: Evidence for genetic control of nondisjunction in man. Am J Hum Genet 1980;132:477-483.
11. Bell A, Gripps M: Familial aneuploidy: What risk to sib? Can J Genet Cytol 1974;16:113-119.
12. Kwiterovich P, Cross J, McKusick VA: Mongolism in an inbred population. Bull John Hopkins Hosp 1966;119:268-275.
13. Devoto M, Prosperi L, Bricarelli D, Coviello D, Croci G, Zelantel L, Ferranti G, Tenconi R, Stomeo C, Romeo G: Frequency of consanguineous marriages among parents and grand parents of Down syndrome patients. Hum Genet 1985;70:256-258.
14. Ford CE, Jones K, Miller O, Mittwoch U, Penrose L, Ridler M, Sapiro A: The chromosome in a patient showing both mongolism and Klinefelter's syndrome. Lancet 1959;i: 709.
15. Lanman JL, Shlarin B, Cooper H, Hirschhorn K: Klinefelter's syndrome in a ten months old mongolism idiot. N Engl J Med 1960;263: 887.
16. Therman E, Patau K, Smith D, Demers R: D trisomy and XO gonadal dysgenesis in two sisters. Am J Hum Genet 1961;13:193-204.
17. Hamerton JL, Brigges S, Gianelli F, Carter C: Chromosomal studies in detection of parents with high risk of second child with Down's syndrome. Lancet 1961;ii:788.
18. Bakker B, Carpenter A, Esposito M, Esposito R, Sandler L: The genetic control of meiosis. Annu Rev Genet 1976;10:53-134.
19. Puri R, Khanna K, Bhargava I, Balakrishnan S: Role of consanguinity in chromosomal syndromes. Indian J Med Res 1977;65:859-864.
20. Matsunaga E: Down's syndrome and maternal inbreeding. Acta Genet Med Gamellol 1966;15:224-229.
21. Juberg R, Davis L: Aetiology of nondisjunction lack of evidence for genetic control; in McKusick VA (ed): Medical Genetics Studies of the Amish. Baltimore, Johns Hopkins University Press, 1978, pp 449-458.
22. Naguib KK: Consanguinity and Chromosomal Aberrations; thesis Medical Research Institute, Alexandria University, 1984.
23. Basaran N, Cenani A, Sayh BS, Ozkinay C, Artan S, Seven H, Basaran A: Consanguineous marriages among parents of Down patients. Clin Genet 1992;42:13-15.
24. Naguib K, Al Awadi S, Moussa M, Mohammed F, Attia M: Down syndrome in sibs: A study of recessive hypothesis controlling nondisjunction. Bull HIP H 1992;22:125-133.
25. Hecht F, Brynat J, Gruber D, Townes P: The nonrandomness of chromosomal abnormalities: Association of trisomy 18 and Down's syndromes. N Engl J Med 1964;271: 1081-1086.
26. Weinstein ED, Warkany: Maternal mosaicism and Down syndrome. J Pediatr 1963;63:599-604.
27. Dallaire L, Fraser FC: Two unusual cases of familial mongolism. Can J Cytol 1965;4:540-547.
28. Aarskog AJ: Cited from Hamerton JL (ed): Human Cytogenetics. Academic Press, 1970.
29. Nuzzo F, Stefanini M, Simoni G, Larizza L, Mottura A, Reali E, Franceschini P: A family with three sibs carrying trisomy 21. Ann Génét 1975;18:111-116.
30. Begleitter et al: Cited from Frohlich et al. [32].
31. Osuna A, Moreno A: Regular G21 trisomy in 3 sibs from mother with trisomy 21 mosaicism. J Med Genet 1977;14:286-287.
32. Frohlich GS, Schdnhaut AG, Tortora JM: Trisomy 21 Down syndrome in sibship. N Y State J Med 1979;79: 929-930.
33. Maximillian C, Pop T, Duca D, Simionescu L, Danielescu M, Loan D: Familial Down syndrome. Endocrinologie 1981;19:65-68.
34. Uchida IA, Freeman VCP: Trisomy 21 Down syndrome paternal mosaicism. Hum Genet 1985;70:246-248.
35. Cavalli J, Fontoura E Jr, Sbaluiero IJ: Letter to the Editor: Down syndrome owing to simple trisomy 21 in first cousins. Am J Med Genet 1985;22:831.
36. Nielsen KG, Poulsen H, Mikkelsen M, Stender E: Multiple recurrence of trisomy 21 Down syndrome. Hum Genet 1988;78:103-105.
37. Pangalos CG, Talbot CC Jr, Lewis JG, Adelsberger PA, Petersen MB, Serre JL, Rethore MO, et al: DNA polymorphism analysis in families with recurrence of free trisomy 21. Am J Hum Genet 1992;51:1015-1027.
38. Therman E, Susman M: Meiotic abnormalities; in Human Chromosome Structure, Behaviour and Effects, ed 3. Berlin, Springer Verlag, 1993, pp 190-202.
39. Tseng LH, Chuang SM, Lee TY, Kotm: Recurrent Down syndrome due to maternal ovarian trisomy 21 mosaicism. Arch Gynecol Obstet 1994;255:213-216.
40. Quaife R, Al-Gazali L: Trisomy 21 in sibs. Emirate Med J 1994;12: 150-153.
41. Krishna Murthy DS, Farag TI: Recurrent regular trisomy 21 in two Bedouin families: Parental mosaicism versus genetic predisposition. Ann Génét (Paris) 1995;38:217-224.
42. Petersen MB: Origin and mechanism of chromosome aneuploidy in Down syndrome. Cytogenet Cell Genet Suppl 1997;77:1.
43. Ives EJ, Alderdice PW, Bridge PJ, Barret IJ, Kolousek DK, Conolly Wilson MJ, Crowley MR: A mosaic trisomy 21 woman with seven trisomy and cytogenetically normal pregnancies. Am J Hum Genet Suppl 1997;4:726,A-128.
44. Perroni L, Dagna Bricarelli F, Grasso M, Pierluigi M, Baldi M, Pedemonte C, Strigini P: Crossing over and chromosome 21 nondisjunction: A study of 60 families. Am J Med Genet 1990(Suppl 7):141-147.
45. Bartsch O, Konig U, Petersen M, Poulsen H, Mikkelsen M, Palau F, Prieto F, Schwinger E: Cytogenetic, FISH and DNA studies in 11 individuals from a family with two siblings with dup(21q) Down syndrome. Hum Genet 1993;92:127-132.
46. Al-Awadi S, Moussa M, Naguib K, Farag T, Teebi A, El-Khalifa M, El-Dossary L: Consanguinity among the Kuwaiti population. Clin Genet 1985;27:483-486.