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Partial deletion of 4p in fetal cells not present in chorionic villi
Author(s) -
Eiben Bernd,
Leipoldt Michael,
Schübbe Ingrid,
Ulbrich Rainer,
Hansmann Ingo
Publication year - 1988
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.1399-0004.1988.tb04264.x
Subject(s) - amniocentesis , chorionic villi , prenatal diagnosis , chorionic villus sampling , fetus , karyotype , medicine , obstetrics , gynecology , pregnancy , biology , chromosome , genetics , gene
A case of a prenatal diagnosis at the second trimester is presented showing a normal karyotype in 12 metaphases from chorionic villi. In all cultured amniotic cells, however, and also in all fetal fibroblasts analyzed after abortion a structural anomaly (46,XY;del 4(pter→p15.2) was detected. Prenatal diagnosis was performed because of intrauterine growth retardation, cleft lip and esophagus atresia by ultrasound. The fetal stigmata are compatible with the Wolf Hirschhorn syndrome. We conclude that amniocentesis may be indicated notwithstanding a normal CV‐diagnosis in those rare pregnancies with a characteristically abnormal ultrasound.