一名患有身材矮小、肥胖、注意力缺陷多动障碍和智力残疾的18岁女性，其源自8号染色体的小额外标记染色体或r(8)(::p11.22→q11.21::)的嵌合体的分子细胞遗传学特征。
Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 or r(8)(::p11.22→q11.21::) in an 18-year-old female with short stature, obesity, attention deficit hyperactivity disorder, and intellectual disability.
作者信息
Chen Chih-Ping, Lin Shuan-Pei, Chern Schu-Rern, Wu Peih-Shan, Chen Yen-Ni, Chen Shin-Wen, Yang Chien-Wen, Lee Meng-Shan, 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, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medicine, MacKay Medical College, New Taipei City, Taiwan; Department of Pediatrics, MacKay Memorial Hospital, Taipei, Taiwan; Department of Early Childhood Care, National Taipei University of Nursing and Health Sciences, Taipei, Taiwan.
出版信息
Taiwan J Obstet Gynecol. 2016 Dec;55(6):856-860. doi: 10.1016/j.tjog.2016.08.003.
OBJECTIVE
We present molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome (sSMC) derived from chromosome 8.
MATERIALS AND METHODS
An 18-year-old female presented with short stature, obesity, developmental delay, speech delay, dyslexia, attention deficit hyperactivity disorder, and intellectual disability. Cytogenetic analysis of the peripheral blood revealed a karyotype of 47,XX,+mar[22]/46,XX[18]. Array comparative genomic hybridization and metaphase fluorescence in situ hybridization analyses were performed on the peripheral blood to determine the origin and mosaicism of the sSMC, and quantitative fluorescent polymerase chain reaction was used to exclude uniparental disomy.
RESULTS
Array comparative genomic hybridization analysis of the blood revealed a result of arr 8p11.22q11.21 (39,136,065-49,725,726)×2.80 (Log2 ratio=0.49), consistent with 70-80% mosaicism, encompassing 33 OMIM genes including GOLGA7, AGPAT6, NKX6-3, KAT6A, and FNTA. The sSMC(8) was r(8)(::p11.22→q11.21::). Metaphase fluorescence in situ hybridization analysis using the probes of RP11-754D24 (8p11.21) and RP11-769N21 (8q11.21) showed the sSMC(8) in 12/27 of cultured lymphocytes. Quantitative fluorescent polymerase chain reaction analysis excluded uniparental disomy 8.
CONCLUSION
Mosaic sSMC(8) derived from r(8)(::p11.22→q11.21::) can be associated with obesity, intellectual disability, and attention deficit hyperactivity disorder.
目的
我们展示了源自8号染色体的小额外标记染色体（sSMC）嵌合体的分子细胞遗传学特征。
材料与方法
一名18岁女性，表现为身材矮小、肥胖、发育迟缓、语言发育迟缓、阅读障碍、注意力缺陷多动障碍和智力残疾。外周血细胞遗传学分析显示核型为47,XX,+mar[22]/46,XX[18]。对其外周血进行了阵列比较基因组杂交和中期荧光原位杂交分析，以确定sSMC的起源和嵌合情况，并使用定量荧光聚合酶链反应排除单亲二体。
结果
血液的阵列比较基因组杂交分析结果为arr 8p11.22q11.21(39,136,065 - 49,725,726)×2.80(Log2比值 = 0.49)，与70 - 80%的嵌合情况一致，包含33个OMIM基因，包括GOLGA7、AGPAT6、NKX6 - 3、KAT6A和FNTA。sSMC(8)为r(8)(::p11.22→q11.21::)。使用RP11 - 754D24(8p11.21)和RP11 - 769N21(8q11.21)探针的中期荧光原位杂交分析显示，在培养的27个淋巴细胞中有12个出现sSMC(8)。定量荧光聚合酶链反应分析排除了8号染色体单亲二体。
结论
源自r(8)(::p11.22→q11.21::)的嵌合性sSMC(8)可能与肥胖、智力残疾和注意力缺陷多动障碍有关。
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