Premium
Partial trisomy 22q12→qter in prenatal diagnosis
Author(s) -
Tolkendorf Erika,
Mehner Gunter,
Prager Bettina
Publication year - 1991
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.1970110511
Subject(s) - trisomy , prenatal diagnosis , partial trisomy , medicine , obstetrics , karyotype , pregnancy , fetus , genetics , biology , chromosome , gene
Ultrasound examination of a 27‐year‐old primigravida at 26 weeks' gestation revealed fetal growth retardation, malformation of the ventricular septum, and a neck fold. Chromosome analysis of the amniotic fluid showed an abnormal 46,XY karyotype with an obvious meta‐centric chromosome 17. Chromosome analysis of the mother revealed a balanced t (17;22) (p13;q12) translocation. The fetus thus has a rare familial duplication 22q12→qter. Eight live‐born and severely malformed infants with this duplication have been reported in the literature.