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Prenatal diagnosis of a partial trisomy 19q
Author(s) -
Tercanli S.,
Hösli I.,
Berlinger A.,
Beyer R.,
Achermann J.,
Holzgreve W.
Publication year - 2000
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 - 10.1002/1097-0223(200008)20:8<663::aid-pd888>3.0.co;2-l
Subject(s) - dup , trisomy , prenatal diagnosis , partial trisomy , gene duplication , pregnancy , obstetrics , autopsy , gestation , karyotype , medicine , fetus , down syndrome , aneuploidy , chromosome , gynecology , genetics , biology , pathology , gene
Phenotypic anomalies due to a genetic imbalance of chromosome 19 have been reported in very rare postnatal cases. Here a case of partial trisomy 19 diagnosed prenatally by ultrasonography and cytogenetic analysis is presented. Detailed evaluation by sonography showed major anomalies which could be correlated to the typical appearance of this chromosomal anomaly. Termination of pregnancy at 21 weeks of gestation was performed, and the prenatal diagnosis was confirmed postnatally by autopsy. The syndrome in this case was caused by a duplication of the long arm of chromosome 19 (46,XY,dup(19) (q13.1→qter). Copyright © 2000 John Wiley & Sons, Ltd.