Preimplantation genetic diagnosis of DiGeorge syndrome

Molecular Human Reproduction

Volumn 4, Issue 9, 1998, Pages 871-875

  Iwarsson, E ^a   Ahrlund Richter L ^b   Inzunza, J ^b   Fridstrom M ^a   Rosenlund, B ^a   Hillensjo T ^a,c   Sjoblom P ^a   Nordenskjold M ^a   Blennow, E ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b KAROLINSKA INSTITUTE   (Sweden)

^c Fertility Centre Scandinavia   (Sweden)

Author keywords

Chromosome 22; Deletion; DiGeorge syndrome; Fluorescent in situ hybridization; Preimplantation genetic diagnosis

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHROMOSOME 22Q; DIGEORGE SYNDROME; FEMALE; GENE DELETION; GENETIC COUNSELING; HUMAN; HUMAN TISSUE; PREIMPLANTATION EMBRYO; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

EID: 0031684683     PISSN: 13609947     EISSN: None     Source Type: Journal    
DOI: 10.1093/molehr/4.9.871     Document Type: Article

References (24)

1. Ammann, A.J., Wara, D.W., Cowan, M.J. et al. (1982) The DiGeorge syndrome and the fetal alcohol syndrome. Am. J. Dis. Child., 136, 906-908.
2. Budarf, M.L., Collins, J., Gong, W et al. (1995) Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene. Nature Genet., 10, 269-278.
3. Cassel, M.J., Munné, S., Fung, J. et al. (1997) Carrier-specific breakpoint-spanning DNA probes: an approach to preimplantation genetic diagnosis in interphase cells. Hum. Reprod., 12, 2019-2027.
4. Desmaze, C., Prieur, M., Amblard, F. et al. (1993) Physical mapping by FISH of the DiGeorge critical region (DGCR): involvement of the region in familial cases. Am. J. Hum. Genet., 53, 1239-1249.
5. Driscoll, D.A., Budarf, M.L and Emanuel, B.S. (1992) A genetic etiology for DiGeorge syndrome, consistent deletions and microdeletions of 22q11. Am J. Hum. Genet., 50, 924-933.
6. Driscoll, D.A. Salvin, J., Sellinger, B. et al. (1993) Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis. J. Med. Genet., 30, 813-817.
7. Gong, W., Emanuel, B.S., Galili, N. et al. (1997) Structural and mutational analysis of a conserved gene (DGSI) from the minimal DiGeorge syndrome critical region. Hum. Mol. Genet., 6, 267-276.
8. Griffin, D.K., Handyside, A.H., Harper, J.C. et al. (1994) Clinical experience with preimplantation diagnosis of sex by dual fluorescent in situ hybridization. J. Assist. Reprod. Genet., 11, 132-142
9. Handyside, A.H., Kontogianni, E.H., Hardy, K. et al. (1990) Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature, 344, 768-770.
10. Harper, J.C., Coonen, E., Ramaekers, F.C. et al. (1994) Identification of the sex of human preimplantation embryos in two hours using an improved spreading method and fluorescent in-situ hybridization (FISH) using directly labelled probes. Hum. Reprod., 9, 721-724.
11. Iwarrson, E., Ahrlund-Richter, L., Inzunza, J. et al. (1998) Preimplantation genetic diagnosis of large pericentric inversion of chromosome 5. Mol. Hum. Reprod., 4, 719-723.
12. Jaquez, M., Driscoll, D.A., Li, M. et al (1997) Unbalanced 15:22 translocation in a patient with manifestations of DiGeorge and velocardiofacial syndrome. Am. J. Med. Genet., 70, 6-10.
13. Kirby, M.L. and Bockman, D.E. (1984) Neural crest and normal development: a new perspective Anat. Rec., 209, 1-6.
14. Lammer, E.J., Chen, D.T., Hoar, R.M. et al. (1985) Retinoic acid embryopathy. N. Engl J. Med., 313, 837-841.
15. Leana-Cox, J., Pangkanon, S., Eanet, K.R et al. (1996) Familial DiGeorge/ velocardiofacial syndrome with deletions of chromosome area 22q11.2: report of five families with a review of the literature. Am. J. Med. Genet., 65, 309-316.
16. Li, M., Budarf, M.L., Sellinger, B. et al. (1994) Narrowing the DiGeorge Region (DGCR) using DGS-VCSF associated translocation breakpoints. Am. J. Hum. Genet., 55, A10.
17. Lissens, W. and Sermon, K (1997) Preimplantation genetic diagnosis: current status and new developments. Hum. Reprod., 12, 1756-1761.
18. McLean, S.D., Saal, H.M., Spinner, N.B. et al. (1993) Velo-cardio-facial syndrome. Intrafamilial variability of the phenotype. Am. J. Dis. Child., 147, 1212-1216.
19. Munné, S., Dailey, T., Sultan, K.M. et al. (1995) The use of first polar bodies for preimplantation diagnosis of aneuploidy. Hum. Reprod., 10, 1014-1020.
20. Novak, R.W. and Robinson, H.B. (1994) Coincident DiGeorge anomaly and renal agenesis and its relation to maternal diabetes [see comments]. Am. J. Med. Genet., 50, 311-312.
21. Pellestor, F., Girardet, A., Andreo, B. et al. (1996) The PRINS technique: potential use for rapid preimplantation embryo chromosome screening. Mol. Hum. Reprod., 2, 135-138.
22. Verlinsky, Y., Cieslak, J., Freidine, M. et al. (1996) Polar body diagnosis of common aneuploidies by FISH. J. Assist. Reprod. Genet., 13, 157-162.
23. Wilson, D.I., Cross, I.E., Goodship, I.A. et al. (1992) A prospective cytogenetic study of 36 cases of DiGeorge syndrome. Am. J. Hum. Genet., 51, 957-963.
24. Wilson, T.A., Blethen, S.L., Vallone, A. et al. (1993) DiGeorge anomaly with renal agenesis in infants of mothers with diabetes. Am. J. Med. Genet., 47, 1078-1082.