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)

R A Pfeiffer; A Rauch; R Ulmer; E Beinder; U Trautmann

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)

Ann Genet. 1998;41(1):17-21.

Authors

R A Pfeiffer¹, A Rauch, R Ulmer, E Beinder, U Trautmann

Affiliation

¹ Institut für Humangenetik, Erlangen, Deutschland.

PMID: 9599646

Abstract

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.

Publication types

Case Reports
Review

MeSH terms

Abnormalities, Multiple / diagnostic imaging
Abnormalities, Multiple / genetics*
Amniocentesis
Chromosome Aberrations / diagnosis
Chromosome Aberrations / genetics*
Chromosome Deletion*
Chromosome Disorders
Chromosome Inversion
Chromosomes, Human, Pair 3 / genetics
Chromosomes, Human, Pair 3 / ultrastructure*
Diaphragm / abnormalities
Fetal Death / genetics*
Fetal Diseases / diagnosis
Fetal Diseases / diagnostic imaging
Fetal Diseases / genetics
Humans
In Situ Hybridization, Fluorescence
Infant, Newborn
Karyotyping
Male
Meiosis
Mutagenesis, Insertional
Phenotype
Polycystic Kidney Diseases / embryology
Polycystic Kidney Diseases / genetics
Spermatozoa / ultrastructure
Ultrasonography, Prenatal