Prenatal diagnosis of del(15)(q26.1) and del(18)(q21.3) due to an unbalanced de novo translocation: ultrasound, molecular cytogenetic and autopsy findings.
A case of partial deletion of the distal parts of chromosomes 15 and 18 [(15)(q26.1)(18)(q21.3)] due to a de novo translocation is reported. Cordocentesis and fetal karyotyping was done because of severe oligohydramnios and bilateral absence of kidneys. Renal defects are a frequent finding in fetuses with different chromosomal anomalies; this particular chromosomal rearrangement however has not been reported yet in a fetus with bilateral renal agenesis. FISH was performed for detailed clarification of the chromosomal anomaly. Prenatal karyotyping appears to be important in fetuses with renal agenesis.
Froster
U G
UG
Institute of Human Genetics, University of Leipzig, Germany. frou@medizin.unileipzig.de
Horn
L C
LC
Holland
H
H
Strenge
S
S
Faber
R
R
D000328:Adult; D002884:Chromosomes, Human, Pair 15; D002887:Chromosomes, Human, Pair 18; D005260:Female; D017353:Gene Deletion; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D007668:Kidney / Q000002:abnormalities*; D011296:Prenatal Diagnosis / Q000379:methods*; D013577:Syndrome; D014178:Translocation, Genetic; D016216:Ultrasonography, Prenatal