Premium
Prenatal diagnosis of an XXY foetal karyotype in a woman with a previous 21‐trisomic child
Author(s) -
Gustavson K.H.,
Kjessler B.,
Thorén S.
Publication year - 1978
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.1399-0004.1978.tb01201.x
Subject(s) - karyotype , prenatal diagnosis , trisomy , klinefelter syndrome , medicine , genetics , aneuploidy , biology , fetus , pregnancy , chromosome , pediatrics , gene
Prenatal chromosome analysis revealed that a 34‐year‐old, gravida 2 mother was pregnant with an XXY foetus. She had previously given birth to a 21‐trisomic boy with another spouse. Both parental karyotypes were normal, but a high frequency of associations between satellited chromosomes was observed in maternal lymphocytes. The possibility that increased satellite associations may predispose to aneuploidy in the offspring is discussed. The finding of normal testicular histology in the aborted XXY foetus provides evidence that the characteristic XXY testicular dysgenetic lesions are likely to occur not earlier than in the late prenatal period.