Trisomy 15 mosaicism in an IVF fetus.

Prenatal Diagnosis of Uniparental Disomy 15 Following Trisomy 15 Mosaicism

“…Post-mortem examination revealed the presence of multiple fetal anomalies in both cases, including a two-vessel cord and malrotation of the bowel (case 1) and extension contractures of joints on both upper extermities; low-set, posteriorly rotated ears; and arrhinencephaly (case 2). These features are consistent with previous reports of trisomy 15 mosaicism, including three liveborns (Gimelli et al, 1983;Lahdetie and Lakkala, 1992;Bennett et al, 1992;Fryns et al, 1993;Sundberg et al, 1994). All cases demonstrated an abnormal phenotype including severe cardiac defects (mitral atresia, ventricular septal defect, subvalvular aortic stenosis), craniofacial dysmorphism (macrocephaly; broad, flat nasal bridge; small mouth; micrognathia), and other anomalies.…”

Delineation of a clinical syndrome caused by mosaic trisomy 15

“…Of 6 cases with proven mosaic trisomy 15, only 3 were diagnosed in living infants, 3 were diagnosed prenatally, and pregnancy was interrupted subsequently [Gimelli et al, 1983;Bennett et al, 1992;Sundberg et al, 19941. Interestingly, 2 of the living children with mosaic trisomy 15 had, in addition, aneuploidies of sex chromosomes.…”

“…Mosaic trisomy 15 has been reported 4 times, twice accompanied by sex chromosome aneuploidy [Gimelli et al, 1983;Stallard and Sommer, 1989;Bennett et al, 1992;Fryns et al, 19931. From these cases as well as from a patient of our own, we think that a consistent clinical syndrome can be delineated.…”

Rare Trisomy Mosaicism Diagnosed in Amniocytes, Involving an Autosome Other Than Chromosomes 13, 18, 20, and 21: Karyotype/Phenotype Correlations

“…Cells with trisomy 15 have been detected in lymphocyte cultures and have led to the diagnosis of trisomy 15 mosaicism in one liveborn (Coldwell et al, 1981) and in one third-trimester fetus (through cordocentesis) (Bennett et al, 1992). However, in four cases diagnosed in amniocytes, successful blood cultures showed cells with trisomy 15 in only one case (XIII-1).…”