Preimplantation Genetic Testing for Marfan syndrome

Molecular Human Reproduction

Volumn 2, Issue 9, 1996, Pages 713-715

  Harton, G L ^a   Tsipouras, P ^b   Sisson, M E ^a   Starr, K M ^a   Mahoney, B S ^a   Fugger, E F ^a,c   Schulman, J D ^a,c   Kilpatrick, M W ^b   Levinson, G ^a,c   Black, S H ^a,c  

^a GENETICS AND IVF INSTITUTE   (United States)

^b UNIVERSITY OF CONNECTICUT SCHOOL OF MEDICINE   (United States)

^c VIRGINIA COMMONWEALTH UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Fibrillin 1; Linkage analysis; Marfan syndrome; Polymerase chain reaction (PCR); Preimplantation genetic testing (PGT)

Indexed keywords

ACTIN BINDING PROTEIN; FIBRILLIN; PRIMER DNA;

ADULT; ARTICLE; BLASTOMERE; CASE REPORT; DINUCLEOTIDE REPEAT; EMBRYO DEVELOPMENT; EMBRYO TRANSFER; FEMALE; FERTILIZATION IN VITRO; GENETICS; HETEROZYGOTE; HOMOZYGOTE; HUMAN; MALE; MARFAN SYNDROME; METHODOLOGY; MUTATION; NEWBORN; NUCLEOTIDE SEQUENCE; PEDIGREE; POLYMERASE CHAIN REACTION; PREGNANCY; PRENATAL DIAGNOSIS;

ADULT; BASE SEQUENCE; BLASTOMERES; DINUCLEOTIDE REPEATS; DNA PRIMERS; EMBRYO TRANSFER; EMBRYONIC DEVELOPMENT; FEMALE; FERTILIZATION IN VITRO; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 0030224254     PISSN: 13609947     EISSN: None     Source Type: Journal    
DOI: 10.1093/molehr/2.9.713     Document Type: Article

References (7)

1. Dietz, H.C., McIntosh, I., Sakai, L.Y. et al. (1993) Four novel FBN-1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome. Genomics, 17, 468-475.
2. Harper, J.C. and Handyside, A.H., (1994) The current status of preimplantation diagnosis. Curr. Obstet. Gynaecol., 4, 143-149.
3. Lee, B., Godfrey, M., Vitale, E. et al. (1991) Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes. Nature, 352, 330-334.
4. Levinson, G., Fields, R.A., Harton, G.L. et al. (1992) Reliable gender screening for human preimplantation embryos, using multiple DNA target-sequences. Hum. Reprod., 7, 1304-1313.
5. Levinson, G., Keyvanfar, K., Wu, J. et al. (1995) DNA-based X-enriched sperm separation as an adjunct to preimplantation genetic testing for the prevention of X-linked disease. Mol. Hum. Reprod., 1,
6. see Hum. Reprod., 10, 979-982.
7. Pyeritz, R.E. (1993) The Marfan syndrome. In Steinmann B. (ed.), Connective Tissue and its Heritable Disorders. Wiley-Liss, New York, pp. 437-468.