COMPREHENSIVE 4-YEAR FOLLOW-UP ON A CASE OF MATERNAL HETERODISOMY FORCHROMOSOME-16

Uniparental disomy for chromosome 16 has been previously identified in fetal deaths and newborn infants with limited follow-up, Thus there i s a lack of information about the long-term effects of maternal unipar ental disomy 16 on growth and development. We present a case of matern al heterodisomy for chromosome 16 and a comprehensive 4-year physical and cognitive evaluation. Cytogenetic analysis of chorionic villus obt ained at 10 weeks gestation for advanced maternal age showed trisomy 1 6, At 15 weeks, amniocentesis demonstrated low level mosaicism 47,XY,16[1]/46,XY[25]. Decreased fetal growth was noted in the last 2 months of pregnancy and the infant was small for gestational age at birth, M olecular studies revealed only maternal alleles for chromosome 16 in a peripheral blood sample from the child, consistent with maternal unip arental heterodisomy 16. Although short stature remains a concern, the re appears to be no major cognitive effects of maternal disomy 16. Cli nical evaluation and follow-up on additional cases should further clar ify the role of placental mosaicism and maternal disomy 16 in intraute rine growth retardation and its effects on long-term growth in childho od. (C) 1996 Wiley-Liss, Inc.