Delineation of a clinical syndrome caused by mosaic trisomy 15

Morphology of early intrauterine deaths with full trisomy 15

“…The high incidence of limb reduction defects among embryonic miscarriages with full trisomy 15 detected by embryoscopy in the present study, and another case of a split hand in a minimal expression recorded in a liveborn with mosaic trisomy 15, indicate that limb reduction defects and craniofacial abnormalities are a common feature of trisomy 15. The strong association of transverse limb reduction defects with trisomy 15 has not been reported previously in the published literature.…”

“…2,3 However, mosaic trisomy 15 may be overlooked due to low levels of mosaicism. 17 The incidence of mosaic trisomy 15 might be higher than that reported at the present time if microarray technologies capable of detecting low levels of mosaicism were used in fetuses or newborns with similar craniofacial and limb defects as those observed in the present study.…”

Relaxation of imprinting in Prader-Willi syndrome

“…(2) only a subset of imprinted loci were expressed, instead of all loci, which would be expected if the paternal chromosome were present; (3) synchronous DNA replication was found only at SNRPN; (4) the phenotype of mosaic trisomy 15 was not apparent (Milunsky et al 1996;Buhler et al 1996); and (5) UPD and BPD cell lines present in a single individual would have required independent postzygotic errors (Cassidy et al 1992). Expression of imprinted genes is more likely to be the result of the relaxation of maternal alleles in the 15q11-q13 interval.…”

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

“…Four liveborns had follow-up information ranging from 10 to 18 months and all were reported to be developmentally normal. The percentage of trisomy 17 cells varied from 5 to 25 per cent in six cases and was 88 per cent in the seventh case (XV-4: 100 per (Metaxotou et al, 1981) 1 (F) 32-year-old with severe MR, short stature, microcephaly, high forehead, small flat midface, short philtrum, simian lines, dislocated hips, scoliosis, short neck and petus excavatum (Kuhn et al, 1987) (Newlin et al, 1995) (quoted in Hsu et al, 1992) (Arnold et al, 1995;Schinzel, 1993;Wooldridge and Zunich, 1995) MCA (Patil et al, 1983) 1 (F) with Fac Dys, short stature, scoliosis, CHD, abn skin pigmentation and normal mental development (English et al, 1994) 1 (M) with infertility, situs inversus, and normal mental development (Richer et al, 1977) (Bühler et al, 1996;Coldwell et al, 1981;Fryns et al, 1993;Kuller and Laifer, 1991;Milunsky et al, 1996;Stallard and Sommer, 1989) cent in cells from an initial amniocentesis and 75 per cent in cells from a second amniocentesis).…”