Moore G E, Ali Z, Khan R U, Blunt S, Bennett P R, Vaughan J I
Action Research Laboratory for the Molecular Biology of Fetal Development, Queen Charlotte's and Chelsea Hospital, London, United Kingdom.
Am J Obstet Gynecol. 1997 Feb;176(2):294-9. doi: 10.1016/s0002-9378(97)70488-5.
Our purpose was to screen for uniparental disomy 35 babies with idiopathic intrauterine growth retardation < 5th percentile.
The placenta and the baby's blood were conventionally karyotyped. Deoxyribonucleic acid from the parents, the baby's blood, and the placenta were then screened for uniparental disomy for 12 candidate chromosomes with use of chromosome-specific polymorphic deoxyribonucleic acid markers.
Two cases of maternal uniparental disomy for chromosome 16 were found associated with confined placental mosaicism for chromosome 16. No other uniparental disomy was found for any of the 12 chromosomes tested. Four structural chromosome abnormalities were also found in this cohort through standard karyotyping.
Uniparental disomy for the chromosomes tested does not explain the etiology of the majority of cases of intrauterine growth retardation < 5th percentile. Maternal uniparental disomy for chromosome 16 accounts for 5% of this cohort. Structural chromosomal abnormalities are also much higher than expected at 11%.
我们的目的是筛查出生体重低于第5百分位数的特发性宫内生长受限的35周龄婴儿的单亲二体性。
对胎盘和婴儿血液进行常规核型分析。然后使用染色体特异性多态性脱氧核糖核酸标记物，对来自父母、婴儿血液和胎盘的脱氧核糖核酸进行12条候选染色体的单亲二体性筛查。
发现2例16号染色体单亲二体性与16号染色体局限胎盘嵌合体有关。在所检测的12条染色体中，未发现其他单亲二体性。通过标准核型分析，在该队列中还发现了4例染色体结构异常。
所检测染色体的单亲二体性不能解释大多数出生体重低于第5百分位数的宫内生长受限病例的病因。16号染色体单亲二体性占该队列的5%。染色体结构异常也比预期的高得多，为11%。
