典型文献
Prenatal Phenotypical Discrepancy in Monozygotic Twins with Tuberous Sclerosis Complex
文献摘要：
Tuberous sclerosis complex (TSC) is an autosomal-dominant genetic disorder characterized by the development of hamartomas in the brain, heart, skin, kidney, lung, retina, and so on. One fetus from family 1 had a cardiac rhabdomyoma from 21 weeks and 6 days of gestational age, and developed multiple rhabdomyomas and tubers in the brain at 23 weeks and 5 days. The counter monozygotic twin fetus remained negative throughout the pregnancy according to imaging examination. A nonsense mutation in
TSC2 (c.4762C>T, p.Gln1588*) was identified in both twins, but not in the mother. Family 2 was one pair of twin fetuses caused by a microdeletion of exon 30 within
TSC2 inherited from their apparently asymptomatic mother with mosaic status. The larger fetus was identified as having the first cardiac rhabdomyoma from 17 weeks and 4 days of gestational age. The smaller fetus developed multiple rhabdomyomas until 25 weeks and 6 days of gestational age. Both families terminated the pregnancy. Here, we provide intrauterine examples of clinical variability among monozygotic twins suffering from TSC.
文献关键词：
Twins;Monozygotic;Rhabdomyoma;Tuberous sclerosis complex
中图分类号：
作者姓名：
Xiong Shiyi;Wu Fengyu;Chen Guangquan;Wang Jian;Yang Yingjun;Xing Ya;Sun Luming
作者机构：
Fetal Medicine Unit & Prenatal Diagnosis Center, Shanghai First Maternity and Infant Hospital, Tongji University, Shanghai 201204, China;Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children’s Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, China
文献出处：
引用格式：
[1]Xiong Shiyi;Wu Fengyu;Chen Guangquan;Wang Jian;Yang Yingjun;Xing Ya;Sun Luming-.Prenatal Phenotypical Discrepancy in Monozygotic Twins with Tuberous Sclerosis Complex)[J].母胎医学杂志（英文）,2022(04):286-289
A类：
Phenotypical,Monozygotic,Tuberous,hamartomas,rhabdomyoma,rhabdomyomas,monozygotic,4762C,Gln1588,microdeletion,within
,Rhabdomyoma
B类：
Prenatal,Discrepancy,Twins,Sclerosis,Complex,sclerosis,complex,autosomal,dominant,genetic,disorder,characterized,by,development,brain,heart,skin,kidney,lung,retina,One,from,family,had,cardiac,weeks,days,gestational,age,developed,multiple,tubers,counter,remained,negative,throughout,pregnancy,according,imaging,examination,nonsense,mutation,TSC2,was,identified,both,twins,but,mother,Family,one,pair,fetuses,caused,exon,inherited,their,apparently,asymptomatic,mosaic,status,larger,having,first,smaller,until,Both,families,terminated,Here,provide,intrauterine,examples,clinical,variability,among,suffering
AB值：
0.458169
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机标中图分类号，由域田数据科技根据网络公开资料自动分析生成，仅供学习研究参考。
