Mosaic Trisomy 8: A Cautionary Note Regarding Missed Antenatal Diagnosis

Journal of Perinatology

Volumn 18, Issue 1, 1998, Pages 78-80

  Southgate, W Michael ^a   Wagner, Carol L ^a   Shields, Sally M ^a   Cantú, Eduardo S ^a   Pai, G Shashidhar ^a  

^a MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 8; DIAGNOSTIC ERROR; FEMALE; HUMAN; MOSAICISM; NEWBORN; PRENATAL DIAGNOSIS; TRISOMY;

CHROMOSOMES, HUMAN, PAIR 8; DIAGNOSTIC ERRORS; FEMALE; HUMANS; INFANT, NEWBORN; MOSAICISM; PRENATAL DIAGNOSIS; TRISOMY;

EID: 0031602511     PISSN: 07438346     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (7)

1. American Academy of Pediatrics, Committee on Genetics. Prenatal genetic diagnosis for pediatricians. Pediatrics 1994;93:1010-5.
2. Golbus MS, Loughman WD, Epstein CJ, Halbasch G, Stephens ID, Hall BD. Prenatal genetic diagnosis in 3000 amniocenteses. N Engl J Med 1979;300:157-63.
3. Buyse ML, editor. Defects encyclopedia. Cambridge, Massachusetts: Blackwell Scientific; 1990. p. 351-2.
4. Hsu LYF, Kaffe S, Jenkins EC, et al. Proposed guidelines for diagnosis of chromosome mosaicism in amniocytes based on data derived from chromosome mosaicism and pseudomosaicism studies. Prenat Diagn 1992;12: 555-73.
5. Schneider M, Klein-Vogler U, Tomiuk J, Schliephacket M, Leipoldt M, Enders H. Pitfall: amniocentesis fails to detect mosaic trisomy 8 in a male newborn. Prenat Diagn 1994;14:651-2.
6. Hanna IS, Nen RL, Barton JR. Difficulties in prenatal detection of mosaic trisomy 8. Prenat Diagn 1995;15:1196-7.
7. Roberts HIE, Saxe DF, Muralidharan K, Coleman KB, Zacharias JF, Fernhoff PM. Unique mosaicism of tetraploidy and trisomy 8: clinical, cytogenetic, and molecular findings in a liveborn infant. Am J Med Genet 1996;62:243-6.