Soong Yung-Kuei, Wang Tzu-Hao, Lee Yun-Shien, Chen Chih-Ping, Chang Chia-Lin, Ho Szu-Ying, Chao An-Shine, Cheng Po-Jen, Chang Shuenn-Dyh
Department of Obstetrics and Gynecology, Lin-Kou Medical Center, Chang Gung Memorial Hospital, Chang Gung University, Taoyuan, Taiwan.
Taiwan J Obstet Gynecol. 2009 Jun;48(2):152-8. doi: 10.1016/S1028-4559(09)60277-1.
To present the clinical and molecular features of a fetus with confined trisomy 16 mosaicism with maternal uniparental disomy (UPD), using various prenatal diagnostic techniques.
Chromosomal karyotyping was performed on samples of chorionic villi, amniotic fluid cells, amniotic membrane, umbilical cord, fetal skin, and placenta from a fetus with elevated nuchal translucency. Polymorphic short tandem repeat markers and Affymetrix single nucleotide polymorphism (SNP) mapping chips were used for molecular analyses.
Karyotypes from chorionic villi and amniocytes showed 47,XX,+16 and 46,XX, respectively. Short tandem repeat markers on chromosome 16 suggested maternal UPD for chromosome 16. Affymetrix 10K SNP mapping chips were used to simultaneously confirm the difference in karyotypes between the placenta and amniocytes and to diagnose UPD for chromosome 16. Fetal ultrasonography and magnetic resonance imaging identified severe intrauterine growth restriction (IUGR). Autopsy revealed IUGR, incomplete lobulation of bilateral lungs, and malrotation of the intestines. The karyotypes of umbilical cord, fetal skin and amniotic membrane were 46,XX, and the trisomy 16 karyotype appeared to be confined to the placenta.
UPD should be investigated as a possible etiology in all cases of unexplained IUGR. SNP microarrays can be useful for confirming this diagnosis.
运用多种产前诊断技术，呈现一例患有16号染色体局限性嵌合三体且伴有母源单亲二倍体（UPD）的胎儿的临床及分子特征。
对一名颈部透明带增厚胎儿的绒毛膜绒毛、羊水细胞、羊膜、脐带、胎儿皮肤和胎盘样本进行染色体核型分析。使用多态性短串联重复序列标记和Affymetrix单核苷酸多态性（SNP）图谱芯片进行分子分析。
绒毛膜绒毛和羊水细胞的核型分别显示为47,XX,+16和46,XX。16号染色体上的短串联重复序列标记提示16号染色体存在母源UPD。使用Affymetrix 10K SNP图谱芯片同时确认胎盘和羊水细胞之间核型的差异，并诊断16号染色体的UPD。胎儿超声检查和磁共振成像发现严重的宫内生长受限（IUGR）。尸检显示IUGR、双侧肺叶不完全分叶和肠旋转不良。脐带、胎儿皮肤和羊膜的核型为46,XX，16三体核型似乎局限于胎盘。
在所有不明原因的IUGR病例中，都应将UPD作为可能的病因进行调查。SNP微阵列有助于确诊。
