Menschen mit Down-Syndrom, Eltern & Freunde e.V.

Fertility in a male with trisomy 21, 1992

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Journal of Medical Genetics, Vol. 29, 1992, S. 141

Fertility in a male with trisomy 21

In 1989, we reported¹ the first fully documented case of an apparently non-mosaic male with Down's syndrome fathering a pregnancy. This pregnancy subsequently miscarried about nine weeks after a CVS procedure.

The same couple returned to the Genetics Centre early in 1991 in the first trimester of pregancy. A chorion villus sample was again obtained (Mr D Maxwell) and this showed a normal karyotype. DNA samples from the CVS were analysed with the highly polymorphic probes D7S21² and D17S30,³ the results confirming that paternal alleles for both markers in the CVS were also present in the putative father. This second pregnancy proceeded to term, and a normal boy has now be born to this couple.
 
 

MARTIN BOBROW, TERESA BARBY, ATIEH HAJIANPOUR, DARRYL MAXWELL, SHU CHING YAU, Division of Medical and Molecular Genetics, Pediatric Research Unit, 7th & 8th Floors, Guy's Tower, Guy's Hospital, London SE1 9RT.
 

1 Sheridan R, Llerena J Jr, Matkins S, Debenham P, Cawood A, Bobrow M. Fertility in a male with trisomy 21. J Med Genet 1989;26:294-8.
2 Wong Z, Wilson V, Patel I, Povey S, Jeffreys AJ. Characterization of a panel of highly variable minisatellites cloned from human DNA. Ann Hum Genet 1987;51:269-88.
3 Horn GT, Richards B, Klinger KW. Amplification of a highly polyrnorphic VNTR segment by the polyrnerase chain reaction. Nucleic Acids Res 1989;17:2140.