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Fertility in patients with X chromosome deletions
Author(s) -
Fryns J. P.,
Kleczkowska A.,
Petit P.,
Berghe H.
Publication year - 1982
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1982.tb01416.x
Subject(s) - genetics , monosomy , biology , breakpoint , offspring , fertility , x chromosome , chromosome , genetic counseling , karyotype , pregnancy , medicine , gene , population , environmental health
Three fertile, non‐mosaic patients with partial monosomy of an X‐chromosome (two with Xp deletion with breakpoints at Xpl 106 and Xp2101, respectively, and one with a del(Xq25)) were found among 12 females with Xp deletion and three with Xq deletion investigated in this laboratory after the advent of banding techniques. Four phenotypically normal children resulted from a total of seven pregnancies in these women. Three of the children were chromosomally normal and one girl presented the same del(Xp) as her mother. The possibility of having genotypically and phenotypically normal offspring should be taken into account in the management and genetic counseling of children and females with X‐chromosome deletions.