PRENATAL-DIAGNOSIS OF SUPERNUMERARY CHROMOSOME DERIVATIVE-(22) DUE TOMATERNAL BALANCED TRANSLOCATION IN ASSOCIATION WITH DIAPHRAGMATIC-HERNIA - A CASE-REPORT

An aneuploid fetus was detected prenatally by cordocentesis at 27 week s' gestation following ultrasonographic diagnosis of severe fetal grow th retardation and a large diaphragmatic hernia. The fetal karyotype w as revealed to be 47,XX,der(22)t(11;22)(q23.3;q11.2) after parental bl oods confirmed a balanced reciprocal translocation in the mother. Appr oximately 85 cases with an unbalanced karyotype 47,XX (or XY), +der(22 ),t(11;22) due to 3:1 meiotic disjunction in the parental translocatio n carrier have been reported in the world literature and only one of t hem was diagnosed prenatally. This is the first detailed case report o f a supernumerary derivative (22) chromosome abnormality diagnosed pre natally in association with diaphragmatic hernia. (C) 1997 by John Wil ey & Sons, Ltd.