在一名产前检测出小额外标记染色体9和额外环状染色体9嵌合体的新生儿中检测到父源单亲二体9。
Detection of paternal uniparental disomy 9 in a neonate with prenatally detected mosaicism for a small supernumerary marker chromosome 9 and a supernumerary ring chromosome 9.
作者信息
Chen Chih-Ping, Chen Ming, Wang Liang-Kai, Chern Schu-Rern, Wu Peih-Shan, Chen Shin-Wen, Lai Shih-Ting, Chang Shun-Ping, Yang Chien-Wen, Pan Chen-Wen, Wang Wayseen
机构信息
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Biotechnology, Asia University, Taichung, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan.
Department of Medical Research, Center for Medical Genetics, Changhua Christian Hospital, Changhua, Taiwan; Department of Genomic Medicine, Center for Medical Genetics, Changhua Christian Hospital, Changhua, Taiwan; Department of Obstetrics and Gynecology, Changhua Christian Hospital, Changhua, Taiwan.
出版信息
Taiwan J Obstet Gynecol. 2017 Aug;56(4):527-533. doi: 10.1016/j.tjog.2017.06.002.
OBJECTIVE
We present the association of paternal uniparental disomy (UPD) 9 with mosaicism for a small supernumerary marker chromosome 9 [sSMC(9)] and a supernumerary ring chromosome 9 [r(9)].
MATERIALS AND METHODS
A 38-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XY,+mar [25]/48,XY,+mar,+r(9) [4]/47,XY,+r(9) [1]/46,XY [6]. The parental karyotypes were normal. Array comparative genomic hybridization (aCGH) of cultured amniocytes revealed a result of de novo 9p13.1q21.11 (38,792,472-71,026,063) × 2.64. The marker chromosome was determined to be an sSMC(9) by spectral karyotyping and aCGH. A phenotypically normal baby was delivered at 38 weeks of gestation. During pediatric follow-ups at age two years, the neonate manifested normal psychomotor and growth development. Cytogenetic analysis, metaphase fluorescence in situ hybridization (FISH), single nucleotide polymorphism (SNP) aCGH and polymorphic DNA marker analysis were performed on the peripheral blood of the neonate.
RESULTS
The neonate's blood had the following results. Metaphase FISH confirmed coexistence of the sSMC(9) and the supernumerary r(9). The karyotype was 47,XY,+sSMC(9) [14]/48,XY, +sSMC(9),+r(9) [10]/47,XY,+r(9) [6]/46,XY [10]. SNP aCGH revealed arr 9p22.3q21.11 (14,234,165-71,035,608) × 2-3, arr 9p24.3p22.3 (216,123-14,629,321)hmz, arr 9p21.3p13.2 (24,769,722-36,732,597)hmz and arr 9q21.11q34.3 (71,013,799-141,011,581)hmz. Polymorphic DNA marker analysis showed paternal isodisomy 9.
CONCLUSION
Individuals with mosaicism for sSMC(9) and supernumerary r(9) may be associated with paternal UPD 9.
目的
我们报道了父源性9号染色体单亲二倍体（UPD）与小额外标记染色体9 [sSMC(9)]和额外环状染色体9 [r(9)]的嵌合现象之间的关联。
材料与方法
一名38岁女性因高龄产妇在妊娠17周时接受了羊膜穿刺术。羊膜穿刺术显示核型为47,XY,+mar [25]/48,XY,+mar,+r(9) [4]/47,XY,+r(9) [1]/46,XY [6]。父母的核型正常。对培养的羊水细胞进行的阵列比较基因组杂交（aCGH）显示，新发9p13.1q21.11（38,792,472 - 71,026,063）×2.64。通过光谱核型分析和aCGH确定标记染色体为sSMC(9)。妊娠38周时分娩出一名表型正常的婴儿。在两岁的儿科随访期间，该新生儿表现出正常的精神运动和生长发育。对新生儿外周血进行了细胞遗传学分析、中期荧光原位杂交（FISH）、单核苷酸多态性（SNP）aCGH和多态性DNA标记分析。
结果
新生儿血液检测结果如下。中期FISH证实sSMC(9)和额外的r(9)共存。核型为47,XY,+sSMC(9) [14]/48,XY,+sSMC(9),+r(9) [10]/47,XY,+r(9) [6]/46,XY [10]。SNP aCGH显示arr 9p22.3q21.11（14,234,165 - 71,035,608）×2 - 3，arr 9p24.3p22.3（216,123 - 14,629,321）纯合，arr 9p21.3p13.2（24,769,722 - 36,732,597）纯合，arr 9q21.11q34.3（71,013,799 - 141,011,581）纯合。多态性DNA标记分析显示父源性9号染色体等二体。
结论
具有sSMC(9)和额外r(9)嵌合现象的个体可能与父源性9号染色体UPD有关。
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