Prenatal diagnosis of a trisomy 17p derived from a de novo non-mosaic satellited marker

Clinical Genetics

Volumn 54, Issue 5, 1998, Pages 421-425

  Kulharya, Anita S ^a   Garcia Heras, Jaime ^b   Radtke, Heather B ^a   Norris, Karen S ^a   Keppen, Laura D ^c   Flannery, David B ^a  

^a MEDICAL COLLEGE OF GEORGIA   (United States)

^b TEXAS DEPARTMENT OF STATE HEALTH SERVICES   (United States)

^c UNIVERSITY OF SOUTH DAKOTA   (United States)

Author keywords

Prenatal diagnosis; Satellited der(17); Trisomy 17p

Indexed keywords

AMNION CELL; ARTICLE; CASE REPORT; CHROMOSOME ANALYSIS; CLINICAL FEATURE; FETUS MALFORMATION; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN CELL; INFANT; INTRAUTERINE GROWTH RETARDATION; MALE; NEWBORN; PHENOTYPE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SUPERNUMERARY CHROMOSOME; TRISOMY; TRISOMY 17P;

EID: 0031770347     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1998.tb03757.x     Document Type: Article

References (17)

1. Bartsch-Sandhoff M, Hieronimi G. Partial duplication of 17p. A new chromosomal syndrome. Hum Genet 1979: 49: 123-127.
2. Feldman GM, Baumer JG, Sparkes RS. Brief clinical report: The dup (17p) syndrome. Am J Med Genet 1982: 11: 299-304.
3. Spinner NB, Biegel JA, Sovinsky L, McDonald-McGinn D, Rehberg K, Parmiter AH, Zackai EH. 46,XX, 15p+ documented as dup (17p) by fluorescence in situ hybridization. Am J Med Genet 1993: 46: 95-97.
4. Latta E, Hoo JJ. Trisomy of the short arm of chromosome 17. Humangenetik 1974: 23: 213-217.
5. Martsolf JT, Larson L, Jalal SM, Wasdahl WA, Miller R, Kukolich M. Complete trisomy 17p. A relatively new syndrome. Ann Genet (Paris) 1988: 31: 172-174.
6. Shabati F, Shalev A, Chemke J, Halbrecht I, Elian E. Pure trisomy 17p in 60% of cells. Hum Genet 1979: 52: 263-268.
7. Pinkel D, Landegent J, Collins C, Fuscoe J, Seagraves R, Lucas J, Gray J. Fluorescence in situ hybridization with human chromosome specific libraries. Detection of trisomy 21 and translocations of chromosome 4. Proc Natl Acad Sci USA 1988: 85: 9138-9142.
8. Brondum-Nielsen K, Mikkelsen M. A 10-year survey, 1980-1990, of prenatally diagnosed small supernumerary marker chromosomes, identified by FISH analysis. Outcome and follow-up of 14 cases diagnosed in a series of 12699 prenatal samples. Prenat Diag 1995: 15: 615-619.
9. Latta E, Hoo JJ. Trisomy of the short arm of chromosome 17. Humangenetik 1974: 23: 213-217.
10. Au W, Witek JA. Cytochemical analysis on a case of familial 17ps. Hum Genet 1979: 48: 195-199.
11. Crandall BF, Carrel RE, Sparkes RS. Chromosome findings in 700 children referred to a psychiatric clinic. J Pediatr 1972: 80: 62-68.
12. Priest JH, Peakman DC, Patil SR, Robinson A. Significance of chromosome 17ps+ in three generations of a family. J Med Genet 1970: 7: 142-147.
13. Sandstrom MmcH, Jenkins EC. A 17p marker chromosome familial study. Ann Genet (Paris) 1973: 16: 267-269.
14. Tharapel AT, Summit RL. Minor chromosome variations and selected heteromorphisms in 200 unclassified mentally retarded patients and 200 normal controls. Hum Genet 1978: 41: 121-130.
15. Killos LD, Lese CM, Mills PL, Prech KS, Stanltey WS, Ledbetter DH. A satellited 17p with telomere deleted and no apparent clinical consequence. Am J Hum Genet 1997: 61: 130A.
16. Jalbert P, Sele B, Jalbert H. Reciprocal translocations: A way to predict the mode of imbalanced segregation by pachytene-diagram drawing. A study of 151 human translocations. Hum Genet 1980: 55: 209-222.
17. Perez Castillo A, Martin-Lucas MA, Abrisqueta JA. New insight into the effects of extra nucleolus organizer regions. Hum Genet 1986: 72: 80-82.