A rare insertional translocation of proximal segment with heterochromatic region of 1q into 7p in monozygotic twins and spontaneous abortions.
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.
Muneer
R S
RS
Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City 73190.
Thompson
L M
LM
Kamat
E
E
D000022:Abortion, Spontaneous / Q000235:genetics*; D000328:Adult; D002878:Chromosomes, Human, Pair 1; D002897:Chromosomes, Human, Pair 7; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D014178:Translocation, Genetic; D014430:Twins, Monozygotic / Q000235:genetics*