A rare insertional translocation of proximal segment with heterochromatic region of 1q into 7p in monozygotic twins and spontaneous abortions

Abstract

We present a family identified through a healthy 20-year-old female with a history of multiple successive spontaneous abortions. Her karyotype demonstrates a rare balanced insertional translocation between chromosomes 1 and 7, 46,XX,dir ins(7;1)(p15.3;q12q21.3). This is the first reported case of a 7;1 insertional translocation involving the proximal segment of chromosome 1 and may well be the cause of the multiple spontaneous abortions in our proband.