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Tetraploidy with hydrops fetalis, cystic nuchal hygroma and 90, XX karyotype
Author(s) -
FRYNS J. P.,
Vandenberghe K.,
Moerman F.,
Kleczkowska A.,
Berghe H. Van den
Publication year - 1987
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.1399-0004.1987.tb02788.x
Subject(s) - hydrops fetalis , cystic hygroma , karyotype , turner syndrome , autosome , fetus , monosomy , aneuploidy , obstetrics , x chromosome , biology , chromosome , medicine , genetics , pregnancy , gene
In the present report we describe a mid‐trimester Turner fetus with cystic nuchal hygroma, hydrops fetalis and 90, XX karyotype. This observation suggests that the development of a typical Turner syndrome in humans is apparently caused by a specific autosome/X chromosome ratio (44:1 in 45, X patients or 88:2 in the present fetus) rather than by an X‐chromosome monosomy.