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中华医学遗传学杂志
四川大学
中华医学遗传学杂志

四川大学

张思仲

双月刊

1003-9406

cjmg@cma.org.cn

028-85501165

610041

四川省成都市人民南路三段17号(四川大学华西校区)

中华医学遗传学杂志/Journal Chinese Journal of Medical GeneticsCSCD北大核心CSTPCD
查看更多>>中华医学会主办，四川大学承办。本刊以报道我国医学遗传学、人类遗传学和相关领域的基础理论、技术方法等最新研究成果；以从事医学遗传学工作的各科临床医生、计划生育工作者、大专院校和科研单位有关人员为主要读者对象。设有述评、论著、技术与方法、综述、调查报告、遗传咨询、临床细胞遗传学、病例报告等栏目。 从1998年以来被美国《医学索引》（IM）、《化学文摘》（CA）、《工程索引》（EI）、ISI数据库的Biological Abstracts及BIOSIS Previews，波兰《哥白尼索引》（IC）,荷兰《医学文摘》（EM）和俄罗斯《文摘杂志》（AJ）等国际著名检索系统收录。
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    Turner综合征伴快进展型青春期患儿1例的临床与遗传学分析及文献回顾

    林小梅戴勇肖智辉汤冬娥...
    1021-1027页
    查看更多>>摘要：目的 探讨1例Turner综合征(TS)伴快进展型青春期患儿的临床特征与遗传学病因。 方法 选取2022年1月19日于深圳市人民医院儿科内分泌专病门诊就诊的1例TS伴快进展型青春期患儿为研究对象。收集患儿相关临床资料，采集患儿外周静脉血样，应用染色体微阵列分析(CMA)与多重连接探针扩增(MLPA)技术，对患儿染色体异常情况进行检测。以"Turner综合征""快进展型青春期"及"Turner syndrome""rapidly progressive puberty"为中、英文关键词，在CNKI、万方数据知识服务平台、博库、CBMdisc、PubMed等数据库中，检索TS伴快进展型青春期患儿相关文献，检索年限设定为2021年11月9日至2022年5月31日，总结该病患儿临床特征及染色体核型。 结果 患儿为13岁2月龄女性，患儿9岁时乳房开始发育，10岁时身高增长缓慢，渐矮小，11岁时月经初潮，13岁时于外院进行染色体核型分析提示为46，X，i(X)(q10)。患儿入院时，身高为143.5 cm(<P3)，面部、右锁骨处皮肤共有6~8颗黑痣，双侧通贯掌，未见鼻梁塌陷、颈蹼、肘外翻、盾状胸、乳距增宽等特殊躯体特征，月经来潮2年2个月，骨龄达15.6岁。CMA检测结果显示，患儿染色体Xp22.33p11.1区域存在58.06 Mb缺失片段，Xp11.1q28区域存在94.49 Mb重复片段。MLPA检测结果显示，患儿X染色体存在短臂单体与长臂三体结构异常。在CNKI、万方数据知识服务平台、博库、CBMdiSC、PubMed等数据库中共计检索出13篇TS伴快进展型青春期患儿相关文献，涉及14例TS伴快进展型青春期患儿，加上该患儿，共计纳入15例患儿的分析结果显示，患儿主要临床表现为身材矮小与生长发育迟缓，染色体核型以嵌合体为主。 结论 TS伴快进展型青春期患儿主要临床表现为身材矮小和生长发育迟缓，Xp22.33p11.1区域缺失与Xp11.1q28区域重复可能是本研究患儿的遗传学病因，为该病患儿临床诊断与遗传咨询提供参考依据。 Objective To investigate the clinical features and genetic etiology of a case of Turner syndrome (TS) with rapidly progressive puberty. Methods A child who had presented at the Pediatric Endocrinology Clinic of the Shenzhen People′s Hospital on January 19, 2022 was selected as the study subject. Clinical data of the child were collected. Peripheral blood sample of the child was subjected to chromosomal microarray analysis (CMA) and multiples ligation-dependent probe amplification (MLPA). Previous studies related to TS with rapidly progressive puberty were retrieved from the CNKI, Wanfang Data Knowledge Service Platform, Boku, CBMdisc and PubMed databases with Turner syndrome and rapidly progressive puberty as the keywords. The duration for literature retrieval was set from November 9, 2021 to May 31, 2022. The clinical characteristics and karyotypes of the children were summarized. Results The child was a 13-year-and-2-month-old female. She was found to have breast development at 9, short stature at 10, and menarche at 11. At 13, she was found to have a 46, X, i(X)(q10) karyotype. At the time of admission, she had a height of 143.5 cm (<P3), with 6~8 nevi over her face and right clavicle. She also had bilateral simian creases but no saddle nasal bridge, neck webbing, cubitus valgus, shield chest or widened breast distance. She had menstruated for over 2 years, and her bone age has reached 15.6 years. CMA revealed that she had a 58.06 Mb deletion in the Xp22.33p11.1 region, and a 94.49 Mb duplication in the Xp11.1q28 region. MLPA has confirmed monosomy Xp and trisomy Xq. A total of 13 reports were retrieved from the CNKI, Wanfang Data Knowledge Service Platform, Boku, CBMdisc and PubMed databases, which had included 14 similar cases. Analysis of the 15 children suggested that their main clinical manifestations have included short stature and growth retardation, and their chromosomal karyotypes were mainly mosaicisms. Conclusion The main clinical manifestations of TS with rapidly progressive puberty are short stature and growth retardation. Deletion in the Xp22.33p11.1 and duplication in the Xp11.1q28 probably underlay the TS with rapid progression in this child, which has provided a reference for clinical diagnosis and genetic counselling for her.

    特纳综合征青春期,早熟X染色体结构异常发育障碍儿童

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    6p25.3杂合缺失伴15q部分三体患者1例的临床表型与遗传学分析

    王海芹时盼来侯雅勤陈铎...
    1028-1031页
    查看更多>>摘要：目的 探讨1例6p25.3杂合缺失伴15q部分三体患者的临床表型及遗传学特征。 方法 选取2021年5月14日就诊于郑州大学第一附属医院遗传与产前诊断中心的1例发育异常患者为研究对象。收集患者临床资料，应用染色体G显带核型分析和拷贝数变异测序(CNV-seq)技术对其进行遗传学分析。 结果 患者主要临床特征为完全性子宫纵隔、阴道纵隔、左眼球萎缩、手指和脚趾异常以及精神发育迟滞。患者核型分析结果为46，XX，der(6)t(6；15)(p25.3；q26.1)。CNV-seq结果提示其染色体6p25.3区和15q26.1q26.3区分别存在1.20 Mb的杂合缺失和10.20 Mb的重复，其中杂合缺失片段包含FOXQ1基因，可能与患者左眼发育异常相关，重复片段与15q26过度生长综合征96.16%的区域重叠(包括IGF1R基因)，可能与患者苗勒氏管发育异常、手指和脚趾异常、精神发育迟滞相关。 结论 染色体6p25.3区杂合缺失和15q26.1q26.3区重复可能是导致患者异常临床表型的遗传学病因。 Objective To investigate the clinical phenotype and genetic characteristics of a patient with a heterozygous 6p25.3 deletion and partial trisomy 15q. Methods A patient who had presented at the Genetics and Prenatal Diagnosis Center of the First Affiliated Hospital of Zhengzhou University on May 14, 2021 was selected as the study subject. Clinical data of the patient was collected, and G-banded chromosomal karyotyping and copy number variation sequencing (CNV-seq) were carried out. Results The patient′s main clinical features included complete uterine septum, vaginal septum, atrophy of left eyeball, abnormal fingers and toes, and mental retardation. The karyotype of the patient was 46, XX, der(6)t(6 15)(p25.3 q26.1). CNV-seq result has indicated a 1.20 Mb heterozygous deletion in the 6p25.3 region and a 10.20 Mb duplication in the 15q26.1q26.3 region. The deletion segment has included the FOXQ1 gene, which may be related with the abnormal development of the left eye. The duplication segment has a 96.16% overlap with the region associated with 15q26 overgrowth syndrome (including the IGF1R gene), which may be related to the patient′ s abnormal development of the Müllerian duct, abnormal fingers and toes, and mental developmental delay. Conclusion The heterozygous deletion of the 6p25.3 region and duplication of the 15q26.1q26.3 region probably underlay the abnormal clinical phenotype in this patient.

    苗勒氏管发育异常精神发育迟滞6p25.3杂合缺失15q26.1q26.3重复

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    21号环状染色体嵌合体胎儿2例的临床特征和遗传学分析

    纪艺珍许亚松孙丽葛运生...
    1032-1035页
    查看更多>>摘要：目的 探讨2例21号环状染色体嵌合体胎儿的围产期临床表型和遗传学特征。 方法 选取2021年11月在厦门市妇幼保健院接受介入性产前诊断的2例胎儿为研究对象。收集2例胎儿的临床资料，应用常规G显带核型分析和染色体微阵列分析(CMA)对2例胎儿及其父母进行遗传学检测。 结果 胎儿1超声提示胎儿鼻骨未显示、室间隔缺损、永存左上腔静脉、三尖瓣轻度返流，染色体核型结果为46，X？，dic r(21；21)(p12q22；q22p12)[41]/45，X？，-21[9]，CMA检测结果提示其染色体21q11.2q22.3区存在30.00 Mb片段的4拷贝，21q22.3区存在3.00 Mb片段的缺失。胎儿2超声提示鼻骨呈点状回声，核型为46，X？，r(21)(p12q22)[83]/45，X？，-21[14]/46，X？，dic r(21；21)(p12q22；q22p12)[3]，CMA结果提示其染色体21q22.12q22.3区存在5.10 Mb片段的4拷贝，21q22.3区存在2.30 Mb片段的缺失。 结论 2例21号环状染色体嵌合体的围产期表型与靠近染色体缺失断裂位点处的染色体片段重复相关，染色体核型分析联合CMA对于环状染色体的产前诊断和遗传咨询具有指导意义。 Objective To investigate the perinatal clinical phenotype and genetic characteristics of two fetuses with ring chromosome 21 mosaicisms. Methods Two fetuses who were diagnosed at the Xiamen Maternal and Child Health Care Hospital in November 2021 were selected as the study subjects. Clinical data of the two fetuses were collected. Conventional G-banded karyotyping and chromosomal microarray analysis (CMA) were carried out for the fetuses and their parents. Results Prenatal ultrasonography of fetus 1 has revealed absence of nasal bone, ventricular septal defect, persistent left superior vena cava, and mild tricuspid regurgitation. Chromosomal karyotyping was 46, X?, dic r(21 21)(p12q22 q22p12)[41]/45, X?, -21[9]. CMA has revealed a 30.00 Mb quadruplication at 21q11.2q22.3 and a 3.00 Mb deletion at 21q22.3. For fetus 2, ultrasonography has revealed pointed echo of the nasal bone. The fetus was found to have a karyotype of 46, X?, r(21)(p12q22)[83]/45, X?, -21[14]/46, X?, dic r(21 21)(p12q22 q22p12)[3]. CMA has revealed a 5.10 Mb quadruplication at 21q22.12q22.3 and a 2.30 Mb deletion at 21q22.3. Conclusion The perinatal phenotype of the two fetuses with ring chromosome 21 mosaicisms is related to the duplication of chromosomal segments near the breakpoints of the chromosomal deletions. The combined chromosomal karyotyping and CMA has enabled prenatal diagnosis and genetic counseling for these families.

    环状染色体嵌合体微缺失/微重复遗传学产前诊断

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    重组8号染色体综合征胎儿1例的临床特征及遗传学分析

    郝万晓张颖昕王艳清谢鲁文...
    1036-1040页
    查看更多>>摘要：目的 探讨重组8号染色体(Rec8)综合征胎儿的临床特征和分子遗传学致病机制。 方法 选取2021年7月20日因"无创产前检测(NIPT)提示胎儿性染色体非整倍体高风险(胎龄为21周)"至山东第一医科大学附属省立医院确诊为Rec8综合征胎儿为研究对象。收集胎儿临床资料，进行胎儿羊水染色体G显带核型分析及染色体微阵列芯片分析(CMA)，对其父母进行外周血染色体G显带核型分析。 结果 胎儿胎龄为23周时，产前胎儿超声提示胎儿眼距宽、唇厚、肾盂分离、肝脏强回声及室间隔缺损。其羊水核型分析结果为46，XX，rec(8)(qter→q22.3：：p23.1→qter)，CMA检测结果为arr[GRCh37]8p23.3p23.1(158049_6793322)×1，8q22.3q24.3(101712402_146295771)×3。胎儿母亲核型为46，XX，inv(8)(p23.1q22.3)，父亲核型正常。 结论 最终被确诊Rec8综合征胎儿的Rec8变异来源于其母亲的8号染色体臂间倒位。该Rec8综合征断裂点是1个新的断裂点。 Objective To explore the clinical characteristics and molecular genetic mechanism of a fetus with recombinant chromosome 8 (Rec8) syndrome. Methods A fetus who was diagnosed with Rec8 syndrome at Shandong Provincial Hospital Affiliated to Shandong First Medical University on July 20, 2021 due to high risk for sex chromosomal aneuploidy indicated by non-invasive prenatal testing (NIPT)(at 21st gestational week) was selected as the study subject. Clinical data of the fetus was collected. G-banded karyotyping and chromosomal microarray analysis (CMA) were carried out on the amniotic fluid sample. Peripheral blood samples of the couple were also subjected to G banded karyotyping analysis. Results Prenatal ultrasonography at 23rd gestational week revealed hypertelorism, thick lips, renal pelvis separation, intrahepatic echogenic foci, and ventricular septal defect. The karyotype of amniotic fluid was 46, XX, rec(8)(qter→q22.3: : p23.1→qter), and CMA was arr[GRCh37]8p23.3p23.1(158049_6793322)×1, 8q22.3q24.3(101712402_146295771)×3. The karyotype of the pregnant woman was 46, XX, inv(8)(p23.1q22.3), whilst her father was normal. Conclusion The Rec8 syndrome in the fetus may be attributed to the pericentric inversion of chromosome 8 in its mother. Molecular testing revealed that the breakpoints of this Rec8 has differed from previously reported ones.

    染色体核型分析染色体微阵列芯片分析8号染色体臂间倒位重组8号染色体综合征胎儿

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    产前诊断15q11.2q13.1微缺失伴超声异常1例

    卢玉彬岳发贵杨潇刘睿智...
    1041-1042页
    查看更多>>摘要：31岁，G2P0A1，因超声提示"胎儿右侧异位肾"于2020年8月就诊于吉林大学第一医院。孕期无有毒、有害及放射线接触史，夫妻双方系非近亲结婚，否认家族遗传病史。孕妇孕23+周时在超声介导下抽取羊水30 mL，取20 mL羊水用于染色体G显带核型分析，取10 mL羊水用于染色体微阵列(chromosomal microarray analysis, CMA)检测。胎儿染色体核型为46，XY，1qh+(图1)，CMA检测结果为arr[GRCh37]15q11.2q13.1(23290787_28928730)×1，提示胎儿15号染色体存在5.638 Mb小片段缺失(图2)。夫妻双方行外周血染色体核型分析与CMA检测均未见异常，提示胎儿携带的15q11.2q13.1微缺失为新发变异。本研究通过了吉林大学第一医院医学伦理委员会的审查(2021-706)，受试者均已签署知情同意书。
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    t(2；6)(p21；p12)平衡易位伴复发性流产1例

    张春晓蓝信强许芯
    1042页
    查看更多>>摘要：女，34岁，G2P0，第1次怀孕1+月自然流产，现因"孕8+周，复发性流产"于2016年7月15日来威海市妇幼保健院就诊。患者身高162 cm，体质量62 kg，外观及智力均未见明显异常，丈夫身高178 cm，体质量85kg，表型未见明显异常。夫妻系非近亲婚配，孕期无患病及服药史，否认家族遗传病史、有毒有害物质及放射线接触史、家系成员不良孕产史。性激素检查未见异常。超声检查：子宫大小24 mm×23 mm×16 mm，右侧卵巢大小29 mm×14 mm，左侧卵巢大小26 mm×12 mm。染色体核型分析提示流产胎儿染色体核型为46，XX，add(2)(p21)(图1)。患者染色体核型46，XX，t(2；6)(p21；p12)(图2)，配偶染色体核型46，XY。结合患者及流产胎儿核型分析，流产胎儿的染色体核型应为46，XX，der(2)t(2；6)(p21；p12)。本研究通过了威海市妇幼保健院伦理委员会的审查(WHFY-YXLLWYH-L2021002)，患者及其家属签署了知情同意书。
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    以十二指肠梗阻为产前表现的17q12微重复综合征2例

    王玉格岳发贵刘睿智张馨月...
    1043-1044页
    查看更多>>摘要：27岁，G1P0，平素月经规则，无出血及其他不适，无胎儿畸形家族史。孕22周超声显示宫内妊娠，单活胎，十二指肠梗阻可能(图1)；颈项透明层超声和孕中期唐氏综合征筛查均为低风险。孕24周G显带核型分析显示胎儿核型为46，XN，inv(9)(p11q13)；染色体微阵列分析(chromosomal microarray analysis，CMA)结果显示为arr[GRCh37]17q12(34440088_36351919)×3(图3)，提示胎儿染色体17q12区存在1.912 Mb重复。抽取夫妇双方外周血样进行CMA验证：孕妇1未见异常，其丈夫为arr[GRCh37]17q12(34440088_36350028)×3(图4)，提示胎儿的染色体重复遗传自父亲。
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    18号长臂部分缺失伴9号短臂部分重复致多发畸形1例

    余红杨晶群刘明李岭...
    1044-1045页
    查看更多>>摘要：男，3月龄，因发育筛查异常就诊。体格检查：身长57 cm(中下水平)，体质量5.5 kg(中等水平)，头围37 cm(落后水平)，面部湿疹，眼睑小，眼距略宽(图1)，左手通贯掌，不会出声笑，能抬头45度，下肢支撑欠佳，心、肺、腹无明显异常。患儿为第1胎，足月顺产，出生体质量3.07 kg，母亲孕期无异常，出生后3 d新生儿疾病筛查结果为阴性。辅助检查：超声提示心脏房间隔缺损，头颅MRI提示双侧侧脑室前角和体部稍增宽。甲状腺功能检查：促甲状腺激素> 100 μIU/mL，血清游离甲状腺素< 5.15 pmol/L。盖泽尔发育评估：适应性、大运动、精细运动、语言、个人-社会发育商分别为61、67、64、59、61。患儿父母表型未见异常，否认近亲婚配。本研究通过了医院伦理委员会的审查(2019009)，患儿的监护人均签署了知情同意书。
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    MPL相关先天性无巨核细胞血小板减少症1例

    胡玲珑周海霞黄珍王瑶...
    1046-1047页
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    ITGB4基因变异致大疱性表皮松解症伴幽门闭锁一个家系的遗传学分析

    黄芬芳朱文博赖广平张兰兰...
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