Preimplantation genetic diagnosis for a known cryptic translocation: Follow-up clinical report and implication of segregation products

American Journal of Medical Genetics

Volumn 121 A, Issue 1, 2003, Pages 56-59

  McKenzie, L J ^a   Cisneros, P L ^a   Torsky, S ^a   Bacino, C A ^a   Buster, J E ^a   Carson, S A ^a   Simpson, J L ^a   Bischoff, F ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

Cryptic translocation; Preimplantation genetic diagnosis; Segregation rates

Indexed keywords

ADULT; AMNIOCENTESIS; ANEUPLOIDY; ARTICLE; CASE REPORT; CHORION VILLUS SAMPLING; CHROMOSOME 17; CHROMOSOME 17Q; CHROMOSOME 2; CHROMOSOME 2Q; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION; CHROMOSOME TRANSLOCATION 17; CHROMOSOME TRANSLOCATION 2; CRYPTIC TRANSLOCATION; DISEASE SEVERITY; EMBRYO DEVELOPMENT; EMBRYO TRANSFER; FEMALE; FERTILIZATION IN VITRO; FLUORESCENCE IN SITU HYBRIDIZATION; FOLLOW UP; GENE FREQUENCY; GENE SEGREGATION; GENE TRANSLOCATION; GENETIC RISK; GENETICS; HUMAN; INHERITANCE; KARYOTYPE 46,XX; KARYOTYPE 46,XY; MALE; MATERNAL AGE; MENTAL DEFICIENCY; METHODOLOGY; PATERNITY; PREGNANCY; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PRENATAL SCREENING; PRIORITY JOURNAL; PROGENY; TELOMERE;

EID: 0042322953     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20159     Document Type: Article

References (18)

1. Bacino C, Kashork Davino N, Shaffer L. 2000. Detection of a cryptic translocation in a family with mental retardation using FISH and telomere region-specific probes. Am J Med Genet 92:250-255.
2. Bischoff FZ, Lewis DE, Nguyen DD, Murrell S, Schober W, Scott J, Simpson JL, Elias S. 1998. Prenatal diagnosis with use of fetal cells isolated from maternal blood: Five-color fluorescent in situ hybridization analysis on flow-sorted cells for chromosomes X, Y, 13, 18, and 21. Am J Obstet Gynecol 179(1):203-209.
3. Boue A, Gallano P. 1973. A collaborative study of the segregation of inherited chromosome structural arrangements in 1356 prenatal diagnosis. Prenat Diagn 4:45.
4. Conn CM, Harper JC, Winston RM, Delhantey JD. 1998. Infertile couples with Robertsonian translocations: Preimplantation genetic diagnosis of embryos reveals chaotic cleavage divisions. Hum Genet 102:117-123.
5. Coonen E, Dumoulin JC, Ramaekers FC, Hopman AH. 1994. Optimal preparation of preimplantation embryo interphase nuclei for analysis by fluorescence in-situ hybridization. Hum Reprod 9:533-537.
6. Daniel A, Hook EB, Wulf G. 1989. Risks of unbalanced progeny at amniocentesis to carriers of chromosomal rearrangements: Data from United States and Canadian Laboratories. Am J Med Genet 31:14.
7. Davis JR, Rogers BB, Hagaman RM, Thies CA, Veomett IC. 1985. Balanced reciprocal translocations; risk factors for aneuploid segregant viability. Clin Genet 27:1-19.
8. Fridstrom M, Ahrlund-Richter L, Iwarsson E, Malmgren H, Inzuunza J, Rosenlund B, Sjoblom P, Blennow E, Hovatta O. 2001. Clinical outcome of treatment cycles using preimplantation genetic diagnosis for structural chromosomal abnormalities. Prenat Diagn 21:781-787.
9. Gianaroli L, Magli MC, Ferraretti AP, Fiorentino A, Garrisi J, Munné S. 1997a. Preimplantation genetic diagnosis increases the implantation rate in human in vitro fertilization by avoiding the transfer of chromosomally abnormal embryos. Fertil Steril 68:1128-1131.
10. Gianaroli L, Magli MC, Munné S, Fiorentino A, Montanaro N, Ferraretti AP. 1997b. Will preimplantation genetic diagnosis assist patients with a poor prognosis to achieve pregnancy. Hum Reprod 12:1762-1767.
11. Kahraman S, Bahcse M, Samli H, Imirzalioglu N, Yakisn K, Cengiz G, Dönmez E. 2000. Healthy births and ongoing pregnanciesobtained by preimplantation genetic diagnosis in patients with advanced maternal age and recurrent implantation failure. Hum Reprod 15:2003-2007.
12. Knight SL, Regan R, Nicod A, Horsley SW, Kearney L, Homfray T, Winter RM, Bolton P, Flint J. 1999. Subtle chromosomal rearrangements in children with unexplained mental retardation. Lancet 354:1676-1681.
13. Munne S. 2001. Preimplantation genetic diagnosis of structural abnormalities. Mol Cell Endocrinol 183:S55-S58.
14. Munne S, Morrison L, Fung J, Marquez C, Weiier U, Bache M, Sable D, Grundfelt L, Schoolcraft B, Scott R, Cohen J. 1998a. Spontaneous abortions are reduced after pre-conception diagnosis of translocations. JARG 15:290-296.
15. Munne S, Marquez C, Reing A, Garrisi J, Alikani M. 1998b. Chromsome abnormalities in embryos obtained following conventional IVF and ICSI. Fertil Steril 69:904-908.
16. Munne S, Sandalinas M, Escudero T, Fung J, Gianaroli L, Cohen J. 2000. Outcome of preimplantation genetic diagnosis of translocations. Fert Sterility 73:1209-1218.
17. Rossi E, Piccini F, Zollino M, Neri G, Caselli D, Tenconi R, Castellan C, Carrozzo R, Daneesino C, Zuffardi O, Ragusa A, Castiglia L, Galesi O, Greco D, Romano C, Pierluigi M, Perfumo C, Rocco M, Faravelli F, Bricarelli F, Bonaglia M, Bedeschi M, Borgatti R. 2001. Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations (Letter to the editor). J Med Genet 38:417-420.
18. Scriven P, Handyside A, Ogilvie C. 1998. Chromosome translocations: Segregation modes and strategies for preimplantation genetic diagnosis. Prenat Diagn 18:1437-1449.