Unbalanced reciprocal translocations at amniocentesis

Abstract

Unbalanced reciprocal translocations detected at amniocentesis are frequently associated with abnormal ultrasound findings. Prenatal diagnosis of an unbalanced translocation may incidentally detect a balanced translocation in the family. Prenatal diagnosis of fetal structural abnormalities should alert structural chromosome rearrangements and prompt cytogenetic analysis of the fetus and parents if necessary.

Partial 9P Monosomy and Partial 8Q Trisomy by Adjacent 1 Segregation of Balanced Paternal Translocation Revealed by Molecular Karyotyping

“…Previous studies in literature have narrowed the critical region of overlapping between the consensus phenotypes to a 4.7 Mb interval in 9p22.2-p23 -region (4,11,18). Distal partial monosomy 9p syndromes are frequently accompanied by other chromosome aberrations, making the definition of the phenotype difficult (2,3,9,10,19). in our case, the 9p monosomy was combined with partial trisomy 8q.…”

A Rare Case of a Mosaic Unbalanced Translocation After Chorionic Villous Sampling

“…Of these 40 cases, 33 (82.5%) had structural abnormalities on ultrasound, 22 (75.9%) were associated with inherited translocations and 11 were considered de novo translocations. None of these unbalanced translocations were mosaic (13). As a result of the rarity of mosaic unbalanced translocations, the presence of four cells with a normal female karyotype in our patient was initially thought to represent maternal cell contamination, whereas the unbalanced translocation was presumed to have been inherited from a balanced carrier parent.…”

Two siblings with unbalanced t(10;21) translocations and non-neuropathic neuropathic bladder

“…Balanced chromosomal translocations are common with an incidence of approximately 1 in 500 whereas unbalanced translocations are relatively frequently detected antenatally following the identification of fetal abnormalities on US 2. Unbalanced translocations can either be inherited or occur do novo, with neither parent having balanced rearrangement.…”