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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.