Abstract：
OBJECTIVE: To explore the clinical and genetic characteristics of a boy with isolated maternal uniparental disomy of chromosome 20 [UPD(20)mat].
METHODS: A child who was admitted to the Tongji Hospital Affiliated to Tongji Medical College of Huazhong University of Science and Technology on April 8,2021. was selected as the study subject. Phenotypic and endocrinological findings of the child were retrospectively analyzed. Whole exome sequencing (WES) and methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) were carried out for detecting the UPD sequences and copy number variations. Both of his parents were verified by Sanger sequencing. Relevant literature was systematically reviewed.
RESULTS: The child, a 3-year-and-8-month-old boy born to a 41-year-old mother by Cesarean delivery at 36+2 gestational weeks due to oligohydramia, had a birth weight of 2 300 g and length of 46 cm. He was admitted to the NICU for feeding difficulties which had persisted despite of clinical management. At the age of 3.75, he had a height of 92.5 cm (< 3rd percentile; 25th ~ 50th percentile at 2.5 years) and a weight of 10.8 kg (< 3rd percentile; 50th percentile at 15 months). He had also presented with growth retardation, short stature, attention deficit and hyperactivity disorder (ADHD), mild mental retardation, and speech and language development disorders. He had simian creases in both hands but no additional dysmorphic signs, and his motor development was normal. Serum insulin, thyroid-stimulating hormone, and insulin growth factor binding protein 3 levels were within the normal ranges, though insulin growth factor-1 (IGF-1) was slightly decreased. Since that time he had continuously used atomoxetine hydrochloride capsules to control his ADHD. WES and MS-MLPA revealed the existence of UPD (20)mat.
CONCLUSIONS: The UPD(20)mat syndrome is characterized by feeding difficulties, growth retardation and short stature. The child in our case has been accompanied by ADHD and speech and language development disorders, which required long-term treatment. For women with advanced maternal age and suggestive phenotypes, genetic testing and counseling should be conducted.
METHODS: A child who was admitted to the Tongji Hospital Affiliated to Tongji Medical College of Huazhong University of Science and Technology on April 8,2021. was selected as the study subject. Phenotypic and endocrinological findings of the child were retrospectively analyzed. Whole exome sequencing (WES) and methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) were carried out for detecting the UPD sequences and copy number variations. Both of his parents were verified by Sanger sequencing. Relevant literature was systematically reviewed.
RESULTS: The child, a 3-year-and-8-month-old boy born to a 41-year-old mother by Cesarean delivery at 36+2 gestational weeks due to oligohydramia, had a birth weight of 2 300 g and length of 46 cm. He was admitted to the NICU for feeding difficulties which had persisted despite of clinical management. At the age of 3.75, he had a height of 92.5 cm (< 3rd percentile; 25th ~ 50th percentile at 2.5 years) and a weight of 10.8 kg (< 3rd percentile; 50th percentile at 15 months). He had also presented with growth retardation, short stature, attention deficit and hyperactivity disorder (ADHD), mild mental retardation, and speech and language development disorders. He had simian creases in both hands but no additional dysmorphic signs, and his motor development was normal. Serum insulin, thyroid-stimulating hormone, and insulin growth factor binding protein 3 levels were within the normal ranges, though insulin growth factor-1 (IGF-1) was slightly decreased. Since that time he had continuously used atomoxetine hydrochloride capsules to control his ADHD. WES and MS-MLPA revealed the existence of UPD (20)mat.
CONCLUSIONS: The UPD(20)mat syndrome is characterized by feeding difficulties, growth retardation and short stature. The child in our case has been accompanied by ADHD and speech and language development disorders, which required long-term treatment. For women with advanced maternal age and suggestive phenotypes, genetic testing and counseling should be conducted.
摘要：
目的：探讨20号染色体[UPD（20）mat]分离母体单亲二染色体的男孩的临床和遗传特征。
方法：华中科技大学同济医学院附属同济医院收治患儿，2021年4月8日。被选为研究对象。回顾性分析了儿童的表型和内分泌检查结果。进行全外显子组测序(WES)和甲基化特异性多重连接依赖性探针扩增(MS-MLPA)以检测UPD序列和拷贝数变异。他的父母都通过Sanger测序进行了验证。系统综述了相关文献。
结果：孩子，一名41岁母亲因羊水过少在36+2孕周剖腹产所生的3岁8个月男孩，出生体重2300克，身长46厘米。他因进食困难而被送进NICU，尽管进行了临床管理，但这种困难仍然存在。在3.75岁时，他的身高为92.5cm（<第3百分位数；2.5岁时为第25〜第50百分位数），体重为10.8kg（<第3百分位数；15个月时为第50百分位数）。他还表现出生长迟缓，身材矮小,注意缺陷多动障碍（ADHD），轻度智力低下,以及言语和语言发育障碍。他的双手都有猿猴折痕，但没有其他的畸形迹象，他的运动发育正常.血清胰岛素，促甲状腺激素,胰岛素生长因子结合蛋白3水平在正常范围内，尽管胰岛素生长因子-1（IGF-1）略有下降。从那时起，他一直使用盐酸托莫西汀胶囊来控制他的多动症。WES和MS-MLPA揭示了UPD(20)垫的存在。
结论：UPD（20）垫综合征的特征是进食困难，生长迟缓和身材矮小。在我们的情况下，儿童患有多动症和言语和语言发育障碍，需要长期治疗。对于具有高龄和暗示性表型的女性，应进行基因检测和咨询。
方法：华中科技大学同济医学院附属同济医院收治患儿，2021年4月8日。被选为研究对象。回顾性分析了儿童的表型和内分泌检查结果。进行全外显子组测序(WES)和甲基化特异性多重连接依赖性探针扩增(MS-MLPA)以检测UPD序列和拷贝数变异。他的父母都通过Sanger测序进行了验证。系统综述了相关文献。
结果：孩子，一名41岁母亲因羊水过少在36+2孕周剖腹产所生的3岁8个月男孩，出生体重2300克，身长46厘米。他因进食困难而被送进NICU，尽管进行了临床管理，但这种困难仍然存在。在3.75岁时，他的身高为92.5cm（<第3百分位数；2.5岁时为第25〜第50百分位数），体重为10.8kg（<第3百分位数；15个月时为第50百分位数）。他还表现出生长迟缓，身材矮小,注意缺陷多动障碍（ADHD），轻度智力低下,以及言语和语言发育障碍。他的双手都有猿猴折痕，但没有其他的畸形迹象，他的运动发育正常.血清胰岛素，促甲状腺激素,胰岛素生长因子结合蛋白3水平在正常范围内，尽管胰岛素生长因子-1（IGF-1）略有下降。从那时起，他一直使用盐酸托莫西汀胶囊来控制他的多动症。WES和MS-MLPA揭示了UPD(20)垫的存在。
结论：UPD（20）垫综合征的特征是进食困难，生长迟缓和身材矮小。在我们的情况下，儿童患有多动症和言语和语言发育障碍，需要长期治疗。对于具有高龄和暗示性表型的女性，应进行基因检测和咨询。
