6 CASES OF PARTIAL DUPLICATION-DEFICIENCY 21-SYNDROME - 21(DUPQ22DELP23) DUE TO MATERNAL PERICENTRIC-INVERSION - INV(21)(P12-Q22) - A FAMILY STUDY

  • 1 January 1986
    • journal article
    • research article
    • Vol. 29  (3) , 177-180
Abstract
Six probands, apparently not related, with a minimal phenotype of Down''s syndrome were investigated between 1970 and 1984 in our laboratory. We found in all of them an identical chromosomal abnormality 46,XX or XY,-21, + der21(dupq22delp23). The der 21 was due to aneusomie de recombinaison, each mother having an abnormal chromosome 21 : inv(21)(p12;q22). The fathers'' caryotypes were normal. All parents were young and healthy. Pedigrees were established in order to find a relationship between these families. Four of our probands could be related. Familial investigations are still in progress for the last two cases; the ancestors being born in the same small geographical area (within 50 km2) we think that we shall be able to establish a relationship with the others families.

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