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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
Author(s) -
Froster Ursula G.,
Horn LarsChristian,
Holland Heidrun,
Strenge Sibylle,
Faber Renaldo
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(200012)20:12<992::aid-pd950>3.0.co;2-7
Subject(s) - chromosomal translocation , oligohydramnios , prenatal diagnosis , karyotype , fetus , agenesis , renal agenesis , autopsy , chromosomal rearrangement , biology , medicine , pathology , kidney , obstetrics , chromosome , anatomy , pregnancy , genetics , gene
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. Copyright © 2000 John Wiley & Sons, Ltd.