Jm. Milunsky et al., TRISOMY 15 MOSAICISM AND UNIPARENTAL DISOMY (UPD) IN A LIVEBORN INFANT, American journal of medical genetics, 61(3), 1996, pp. 269-273
We describe a liveborn infant with uniparental disomy (UPD) with triso
my 15 mosaicism, Third trimester amniocentesis yielded a 46,XX/47,XX,
+ 15 karyotype, Symmetrical growth retardation, distinct craniofacies,
congenital heart disease, severe hypotonia and minor skeletal anomali
es were noted, The infant died at 6 weeks of life, Peripheral lymphocy
te chromosomes were ''normal'' 46,XX in 100 cells, Parental lymphocyte
chromosomes were normal, Skin biopsy showed 47,XX, + 15 in 80% of fib
roblasts and results were equivalent in fibroblasts from autopsy lung
tissue, Molecular analysis revealed maternal uniparental heterodisomy
for chromosome 15 in the 46,XX cell line, We describe an emerging phen
otype of trisomy 15 mosaicism, confirm that more than one tissue shoul
d be studied in all cases of suspected mosaicism, and suggest that UPD
be considered in all such cases. (C) 1996 Wiley-Liss, Inc.