Prenatal diagnosis and neonatal phenotype of a de novo microdeletion of 17p11.2p12 associated with Smith-Magenis syndrome and external genital defects

Zhang Pingping; Sun Yanmei; Tian Haishen; Rong Limin; Wang Fangna; Yu Xiaoping; Li Yali; Gao Jian

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Prenatal diagnosis and neonatal phenotype of a de novo microdeletion of 17p11.2p12 associated with Smith-Magenis syndrome and external genital defects

机译：史密斯 - Magenis综合征和外生生殖器缺损的17p11.2p12的De Novo微缺失的产前诊断和新生儿表型

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Smith-Magenis syndrome (SMS, OMIM: 182290) is a multiple congenital anomalies and intellectual disability syndrome due to a 3.45 Mb microdeletion involving 17p11.2 and is estimated to occur about one in 25,000 births. Up to now, the ultrasound findings of the foetus with SMS and their external genital defects in patients are rarely reported. This case indicates that foetus with SMS may present polyhydramnios and ventriculomegaly in the second trimester. The newborn male patient had an abnormal phenotype in which he has micropenis and his anus is close to the perineal body. The identification of this case may further expand the phenotypic spectrum of this genetic disorder.

机译：Smith-Magenis综合征（SMS，OMIM:182290）是一种多发性先天性异常和智力残疾综合征，由于涉及17p11的3.45MB微缺失。据估计，每25000例新生儿中就有一例发生这种情况。到目前为止，对患有SMS的胎儿及其外生殖器缺陷患者的超声检查结果鲜有报道。本病例表明，患有SMS的胎儿在妊娠中期可能出现羊水过多和脑室扩大。新生儿男性患者有一个异常表型，他有小阴茎，肛门靠近会阴体。该病例的鉴定可能进一步扩大这种遗传疾病的表型谱。

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来源
《Journal of genetics》 |2020年第1期|共6页
作者
Zhang Pingping; Sun Yanmei; Tian Haishen; Rong Limin; Wang Fangna; Yu Xiaoping; Li Yali; Gao Jian;
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作者单位

Hebei Gen Hosp Dept Reprod &

Genet 348 West Heping Rd Shijiazhuang 050051 Hebei Peoples R China;

Hebei Gen Hosp Dept Reprod &

Genet 348 West Heping Rd Shijiazhuang 050051 Hebei Peoples R China;

Hebei Gen Hosp Dept Reprod &

Genet 348 West Heping Rd Shijiazhuang 050051 Hebei Peoples R China;

Hebei Gen Hosp Dept Reprod &

Genet 348 West Heping Rd Shijiazhuang 050051 Hebei Peoples R China;

Hebei Gen Hosp Dept Reprod &

Genet 348 West Heping Rd Shijiazhuang 050051 Hebei Peoples R China;

Hebei Gen Hosp Dept Reprod &

Genet 348 West Heping Rd Shijiazhuang 050051 Hebei Peoples R China;

Hebei Gen Hosp Dept Reprod &

Genet 348 West Heping Rd Shijiazhuang 050051 Hebei Peoples R China;

Hebei Gen Hosp Dept Reprod &

Genet 348 West Heping Rd Shijiazhuang 050051 Hebei Peoples R China;

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原文格式 PDF
正文语种 eng
中图分类遗传学;
关键词
chr17p11; 2p12 deletion; prenatal diagnosis; neonatal phenotype; Smith-Magenis syndrome; SNP array;

机译：CHR17P11;2P12缺失;产前诊断;新生儿表型;史密斯 - Magenis综合征;SNP阵列;

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1. Use of amniocytes for prenatal diagnosis of 22q11.2 microdeletion syndrome： a feasibility study [J] . LIU Tao, LIU Qing, WANG Yi-xin, 中华医学杂志：英文版 . 2010,第004期
2. Use of amniocytes for prenatal diagnosis of 22q11.2 microdeletion syndrome: a feasibility study [J] . LIU Tao, LIU Qing, WANG Yi-xin, 中华医学杂志（英文版） . 2010,第004期
3. Neonatal surgical outcomes after prenatal diagnosis of complex congenital heart disease: experiences of a perinatal integrated diagnosis and treatment program [J] . Xu Liu, Hai-Fa Hong, Hai-Bo Zhang, 世界儿科杂志（英文版） . 2020,第005期
4. Neonatal surgical outcomes after prenatal diagnosis of complex congenital heart disease: experiences of a perinatal integrated diagnosis and treatment program [J] . Xu Liu, Hai-Fa Hong, Hai-Bo Zhang, 世界儿科杂志(英文版) . 2020,第005期
5. Prenatal diagnosis of fetal aortopulmonary septal defect with ventricular septal defect by two-dimension echocardiography [J] . 中华医学杂志（英文版） . 2008,第024期
6. Prenatal diagnosis and neonatal phenotype of a de novo microdeletion of 17p11.2p12 associated with Smitha??Magenis syndrome and external genital defects [J] . PINGPING ZHANG, YANMEI SUN, HAISHEN TIAN, Journal of genetics . 2020,第2期

机译：17p11.2p12的德诺诊断和新生儿表型与史密萨综合征和外生生殖器缺陷相关的17p11.2p12
7. Prenatal diagnosis of Smith-Magenis syndrome in two fetuses with increased nuchal translucency, mild lateral ventriculomegaly, and congenital heart defects [J] . Lei Ting-Ying, Li Ru, Fu Fang, Taiwanese journal of obstetrics and gynecology . 2016,第6期

机译：两名胎儿的Smith-Magenis综合征的产前诊断，其颈部半透明性增加，轻度侧脑室肥大和先天性心脏缺陷
8. Prenatal diagnosis and molecular cytogenetic characterization of a de novo 4.858-Mb microdeletion in 15q14 associated with ACTC1 and MEIS2 haploinsufficiency and tetralogy of Fallot [J] . Chih-Ping Chen, Chen-Yu Chen, Schu-Rern Chern, Taiwanese journal of obstetrics and gynecology . 2016,第2期

机译：15q14 de novo 4.858-Mb微缺失与 ACTC1 和 MEIS2 的产前诊断和分子细胞遗传学表征ce：italic>法洛单倍剂量不足和四联症
9. Early Prenatal Diagnosis of Down's Syndrome-A Machine Learning Approach [C] . Esther Hannah, Lilly Raamesh, Sumathi International Conference on Soft Computing for Problem Solving . 2020

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10. A microdeletion involving TNIK is associated with alteration of the Dup(3q) Syndrome phenotype. [D] . Matos, Jennifer Dawn. 2008

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11. Prenatal Diagnosis of 4p and 4q Subtelomeric Microdeletion in De Novo Ring Chromosome 4 [O] . Halit Akbas, Naci Cine, Mahmut Erdemoglu, 2013

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13. De Novo Chromosome Copy Number Variation in Fanconi Anemia-Associated Hematopoietic Defects. [R] . Howlett, N. G. 2014

机译：Fanconi贫血相关造血缺陷中的De Novo染色体拷贝数变异。

Prenatal diagnosis and neonatal phenotype of a de novo microdeletion of 17p11.2p12 associated with Smith-Magenis syndrome and external genital defects

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