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Prenatal diagnosis of ring chromosome 6
Author(s) -
Dawson A. J.,
Marles S. L.,
Harman C. R.,
Phillips S.,
Menticoglou S.
Publication year - 1995
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970150915
Subject(s) - amniocentesis , fetus , medicine , prenatal diagnosis , karyotype , ultrasound , obstetrics , ring chromosome , gynecology , thickening , chromosome , pregnancy , genetics , biology , radiology , chemistry , polymer science , gene
An amniocentesis was performed on a gravida 1, para 0 23‐year‐old female because of high maternal serum alpha‐fetoprotein and nuchal thickening/cystic mass apparent on the fetal ultrasound. Detailed ultrasound examination revealed multiple anomalies including brain abnormalities. The fetus was found to have a mosaic female karyotype: 45,XX, ‐ 6/46,XX,r(6) (p25q27) (62 per cent:38 per cent). This is the first report of a prenatally diagnosed case of ring chromosome 6.