Chromosomal abnormalities: Trisomy 18, trisomy 13, deletions, and microdeletions

Journal of Perinatal and Neonatal Nursing

Volumn 13, Issue 2, 1999, Pages 59-75

  Matthews, Anne L ^a  

^a CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Anticipatory guidance; Deletion syndrome; Microdeletion syndrome; Trisomy 13; Trisomy 18

Indexed keywords

CHROMOSOME 13; CHROMOSOME 18; CHROMOSOME ABERRATION; CHROMOSOME DISORDER; FAMILY; GENE DELETION; GENETIC COUNSELING; GENETIC SCREENING; GENETICS; HUMAN; INFORMATION SERVICE; INTERNET; METHODOLOGY; NEWBORN; NEWBORN NURSING; NURSING; PRENATAL DIAGNOSIS; PSYCHOLOGICAL ASPECT; REVIEW; TRISOMY;

CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 13; CHROMOSOMES, HUMAN, PAIR 18; FAMILY; GENE DELETION; GENETIC COUNSELING; GENETIC SCREENING; HUMANS; INFANT, NEWBORN; INFORMATION SERVICES; INTERNET; NEONATAL NURSING; PRENATAL DIAGNOSIS; TRISOMY;

EID: 0033186881     PISSN: 08932190     EISSN: None     Source Type: Journal    
DOI: 10.1097/00005237-199909000-00006     Document Type: Article

References (50)

1. Gelehrter TD, Collins FS, Ginsburg D. Principles of Medical Genetics. 2nd ed. Baltimore: Williams & Wilkins, 1998.
2. Jones KL. Smith's Recognizable Patterns of Human Malformations. 5th ed. Philadelphia: W. B. Saunders Company, 1997.
3. Hook EB, Cross PK, Regal RR. The frequency of 47, +21, 47, +18, and 47, +13 at the uppermost extremes of maternal ages: Results on 56,094 fetuses studied prenatally and comparisons with data on livebirths. Hum Genet. 1984;68:211-220.
4. Edwards JH, Harnden DG, Cameron AH: A new trisomic syndrome. Lancet. 1960;1:787.
5. Goldstein H, Nielsen KG. Rates and survival of individuals with trisomy 13 and trisomy 18. Clin Genet. 1988;34:366-372.
6. Carothers AD. A cytogenetic register of trisomies in Scotland: results of the first two years (1989, 1990). Clin Genet. 1994;46:495-509.
7. Embleton ND, Wyllie JP, Wright MJ, Burn J, Hunter J. Natural history of trisomy 18. Arch Dis Child. 1996;75:F38-F41.
8. Weber WW. Survival and the sex ratio in trisomy 17-18. Am J Hum Genet. 1967;19:369-377.
9. Root S, Carey JC. Survival in trisomy 18. Am J Med Genet. 1994;49:170-174.
10. Twining P. Ultrasound diagnosis of chromosomal disease. In: Reed GB, Claireaux AE, Cockburn DF, eds. Disease of the Fetus and Newborn. 2nd ed. London: Chapman & Hall; 1995.
11. Milunsky A, ed. Genetic Disorders and The Fetus: Diagnosis, Prevention and Treatment. 4th ed. Baltimore, MD: Johns Hopkins University Press; 1998.
12. Young I, Cook J, Mehta L. Changing demography of trisomy 18. Arch Dis Child. 1986;61:1035-1036.
13. Baty BJ, Blackburn BL, Carey JC. Natural history of trisomy 18 and trisomy 13: I. Growth, physical assessment, medical histories, survival, and recurrence risk. Am J Med Genet. 1994;49:175-188.
14. Patau K, Smith DW, Therman E. Multiple congenital anomaly caused by an extra autosome. Lancet. 1960;1:790-793.
15. Hook EB. Prevalence, risks and recurrence. In: Brock DH, Rodeck CH, Ferguson-Smith MA, eds. Prenatal Diagnosis and Screening. New York: Churchill Livingstone; 1992.
16. Tomie JL. Down syndrome and other autosomal trisomies. In: Rimoin D, Connor JM, Pyeritz RE, eds. Emery and Rimoin's Principles and Practice of Medical Genetics. 3rd ed. New York: Churchill Livingstone; 1997.
17. Scarbrough PR, Finley WH, Finley SC. A review of trisomies 21, 18, and 13. Ala J Med Sci. 1982;19:174-188.
18. Wyllie JP, Wright MJ, Burn J, Hunter S. Natural history of trisomy 13. Arch Dis Child. 1994;71:343-345.
19. Bos AP, Broers CJM, Hazebroek FWJ. Avoidance of emergency surgery in newborn infants with trisomy 18. Lancet. 1992; 339:913-915.
20. Shellbarger S, Thompson T. The critical times: meeting parental communication needs throughout the NICU experience. Neonatal Net. 1993;12:39.
21. Baty BJ, Blackburn BL, Carey JC. Natural history of trisomy 18 and trisomy 13: II. Psychomotor development. Am J Med Genet. 1994;49:175-188.
22. Carey JC. Health supervision and anticipatory guidance for infants and children with trisomy 18 and 13: suggested guidelines. Research Newsletter, Support Organization for Trisomy 18, 13 and Related Disorders. 1993;1:1-3.
23. Schmickel RD. Contiguous gene syndromes: a component of recognizable syndromes. J Pediatr. 1986;109:231-241.
24. Hirschhorn K, Cooper HL, Firschein IL. Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion. Humangenetik. 1965;1:479-482.
25. Wolf U, Reinwein H, Forsch R. Defizienz an den kurzen Ameneines Chromosomes Nr.4. Humangenetik. 1965;1:397-413.
26. Goodman RM, Gorlin RJ. The Malformed Infant and Child. New York: Oxford University Press; 1983.
27. Lurie IW, Lazjuk GI, Ussova YI, et al. The Wolf-Hirschhorn syndrome I. Genetics. Clin Genet. 1980;17:375-384.
28. Spinner NB, Emanuel BS. Deletions and other structural abnormalities of the autosomes. In: Rimoin DL, Conner JM, Pyeritz RE, eds. Emery and Rimoin's Principles and Practice of Medical Genetics. 3rd ed. New York: Churchill Livingstone; 1997.
29. Niebuhr E. Cytologic observations in 35 individuals with a 5p-karyotype. Hum Genet. 1978b.42:146-156.
30. Overhauser J, Beaudet AL, Wasmuth JJ. A fine structure physical map of the short arm of chromosome 5. Am J Hum Genet. 1986;39:562-572.
31. Wilkins LE, Brown JA, Nance WE, Wolf. Clinical heterogeneity in 80 home-reared children with cri du chat syndrome. J Pediatr. 1983;102:528-533.
32. Wilkins LE, Brown JA, Wolf B. Psychomotor development in 65 home-reared children with cri-du-chat syndrome. J Pediatr. 1980;97:401-405.
33. Martinez JE, Tuck-Miller CM, Superneau D, Wertelecki W. Fertility and the cri du chat syndrome. Clin Genet. 1993;43:212-214.
34. Burn J, Goodship J. Congenital heart disease. In: Rimoin DL, Conner JM, Pyeritz RE, eds. Emery and Rimoin's Principles and Practice of Medical Genetics. 3rd ed. New York: Churchill Livingstone; 1997.
35. DiGeorge AM. Discussions on a new concept of the cellular basis of immunology. J Pediatr. 1965;67:907.
36. Driscoll DA, Salvin J, Sellinger B, et al. Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: Implications for genetic counseling and prenatal diagnosis. J Med Genet. 1992;30: 813-817.
37. Driscoll DA, Budarf ML, Emanuel BS. A genetic etiology for DiGeorge syndrome: Consistent deletions and microdeletions of 22q11. Am J Hum Genet. 1992;50:924-933.
38. Shprintzen RJ, Goldberg RB, Lewin ML, et al. A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: Velo-cardio-facial syndrome. Cleft Palate J. 1978;5:56-62.
39. Wulfsberg EA, Leana-Cox J, Neri G. What's in a name? Chromosome 22q abnormalities and the DiGeorge, velocardiofacial and conotruncal anomalies face syndromes. Am J Med Genet. 1996;65:317-319.
40. Miller JQ. Lissencephaly in 2 siblings. Neurology. 1963;13:841-850.
41. Dieker H, Edwards RH, ZuRhien, et al. The lissencephaly syndrome. Birth Defects Original Article Series. 1969;5:53.
42. Jones KL, Gilber EF, Kaveggia EG, Opitz JM. The Miller-Dieker syndrome. Pediatr. 1980;66:277.
43. Dobyns WB, Curry CJR, Hoyme HE. Clinical and molecular diagnosis of Miller-Dieker syndrome. Am J Hum Genet. 1991;48:584-594.
44. Ledbetter SA, Kuwano A, Dobyns WB, Ledbetter DH. Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly. Am J Hum Genet. 1992;50:182-189.
45. Reiner O, Carrozzo R, Shen Y, et al. Isolation of a Miller-Dieker lissencephaly gene containing G protein B subunit-like repeats. Nature. 1993;364:717-721.
46. Walden BJ. The newborn infant with Down syndrome: Realities and possibilities. J Perinat Neonatal Nurs. 1989;2:72-82.
47. Matthews, AL. Known fetal malformations during pregnancy: A human experience of loss: In: Fine B, Gettig E, Greendale K, Leopold B, Paul NW, eds. Strategies in Genetic Counseling: Reproductive Genetics and New Technologies. National Foundation March of Dimes Birth Defects Original Article Series. 1990;26:168-175.
48. Carey JC. Health supervision and anticipatory guidance for children with genetic disorders (including specific recommendations for trisomy 21, trisomy 18 and neurofibromatosis I). Pediatr Clin North Am. 1992;39:25-53.
49. American Academy of Pediatrics. General Principles in the care of children and adolescents with genetic disorders and other chronic health conditions. Pediatr. 1997;99:643-647.
50. Gardner RJM, Sutherland GR. Chromosome Abnormalities and Genetic Counseling. 2nd ed. New York: Oxford University Press; 1996.