Interstitial deletion del(3)(p12p21) in a malformed child subsequent to paternal paracentric insertion (or intraarm shift) 46,XY, ins(3)(p24.1p12.1p21.31).
We report on a malformed stillborn with deletion 3p subsequent to direct paracentric insertion (intraarm shift) in the normal father which had been first mistaken for paracentric inversion. The corrected diagnosis was supported by FISH of mapped markers on metaphase chromosomes. In addition we looked for recombinants in sperm. This observation reminds similar cases that had been considered exceptions to the expected meiotic recombination of paracentric inversions and points to a cytogenetic pitfall. Published deletions and paracentric inversions in 3p are briefly quoted.
Pfeiffer
R A
RA
Institut für Humangenetik, Erlangen, Deutschland.
Rauch
A
A
Ulmer
R
R
Beinder
E
E
Trautmann
U
U
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D000649:Amniocentesis; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D007446:Chromosome Inversion; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics / Q000648:ultrastructure*; D003964:Diaphragm / Q000002:abnormalities; D005313:Fetal Death / Q000235:genetics*; D005315:Fetal Diseases / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D008540:Meiosis; D016254:Mutagenesis, Insertional; D010641:Phenotype; D007690:Polycystic Kidney Diseases / Q000196:embryology / Q000235:genetics; D013094:Spermatozoa / Q000648:ultrastructure; D016216:Ultrasonography, Prenatal