A rare de novo interstitial duplication of 15q15.3q21.2 in a boy with severe short stature, hypogonadism, global developmental delay and intellectual disability

被引：0

作者：

Haiming Yuan

Zhe Meng

Lina Zhang

Xiangyang Luo

Liping Liu

Mengfan Chen

Xinwei Li

Weiwei Zhao

Liyang Liang

机构：

[1] Sun Yat-Sen University,Sun Yat

[2] Guangzhou kingmed center for clinical laboratory Co.,Sen Memorial Hospital

[3] Ltd.,Department of Obstetrics and Gynecology

[4] KingMed School of Laboratory Medicine Guangzhou Medical University,undefined

[5] Wuhan women and children medical healthcare center,undefined

来源：

Molecular Cytogenetics | / 9卷

关键词：

Short stature ; Hypogonadism; Global developmental delay; Intellectual disability; Interstitial duplication15q15.3q21.2;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

引用

共 16 条

[1] A rare de novo interstitial duplication of 15q15.3q21.2 in a boy with severe short stature, hypogonadism, global developmental delay and intellectual disability
Yuan, Haiming
Meng, Zhe
Zhang, Lina
Luo, Xiangyang
Liu, Liping
Chen, Mengfan
Li, Xinwei
Zhao, Weiwei
Liang, Liyang
MOLECULAR CYTOGENETICS, 2016, 9
[2] A de novo 17q21.2 duplication in a boy with developmental delay and dysmorphic features
Poirsier-Violle, Celine
Abourra, Azzedine
Baumann, Clarisse
Perrin, Laurence
Capri, Yline
Mignot, Cyril
Passemard, Sandrine
Drunat, Severine
Verloes, Alain
EUROPEAN JOURNAL OF MEDICAL GENETICS, 2013, 56 (04) : 226 - 228
[3] A Rare de novo Interstitial Duplication at 4p15.2 in a Boy with Severe Congenital Heart Defects, Limb Anomalies, Hypogonadism, and Global Developmental Delay
Liang, Liyang
Xie, Yingjun
Shen, Yiping
Yin, Qibin
Yuan, Haiming
CYTOGENETIC AND GENOME RESEARCH, 2016, 150 (02) : 112 - 117
[4] Heterozygous Deletion of Chromosome 15q13.3 in a Boy with Developmental Regression, Global Developmental Delay, Hypotonia, and Short Stature
Strauss, Allison M. M.
Buhle, Anna C. C.
Finkler, David M. M.
PEDIATRIC REPORTS, 2022, 14 (04): : 528 - 532
[5] A de novo PAK1 likely pathogenic variant and a de novo terminal 1q microdeletion in a Chinese girl with global developmental delay, severe intellectual disability, and seizures
Jianlong Zhuang
Meihua Xie
Jianfeng Yao
Wanyu Fu
Shuhong Zeng
Yuying Jiang
Yuanbai Wang
Yingjun Xie
Gaoxiong Wang
Chunnuan Chen
BMC Medical Genomics, 16
[6] A de novo PAK1 likely pathogenic variant and a de novo terminal 1q microdeletion in a Chinese girl with global developmental delay, severe intellectual disability, and seizures
Zhuang, Jianlong
Xie, Meihua
Yao, Jianfeng
Fu, Wanyu
Zeng, Shuhong
Jiang, Yuying
Wang, Yuanbai
Xie, Yingjun
Wang, Gaoxiong
Chen, Chunnuan
BMC MEDICAL GENOMICS, 2023, 16 (01)
[7] Novel 10q21.1-q22.1 Duplication in a Boy with Minor Facial Dysmorphism, Mild Intellectual Disability, Autism Spectrum Disorder-Like Phenotype, and Short Stature
Toral-Lopez, Jaime
Gonzalez-Huerta, Luz Maria
CYTOGENETIC AND GENOME RESEARCH, 2024, 164 (3-4) : 148 - 153
[8] 16q24.3 Microduplication in a Patient With Developmental Delay, Intellectual Disability, Short Stature, and Nonspecific Dysmorphic Features: Case Report and Review of the Literature
Bucerzan, Simona
Miclea, Diana
Lazea, Cecilia
Asavoaie, Carmen
Kulcsar, Andrea
Grigorescu-Sido, Paula
FRONTIERS IN PEDIATRICS, 2020, 8
[9] A de novo 7.6 Mb tandem duplication of 14q32.2-qter associated with primordial short stature with neurosecretory growth hormone dysfunction, distinct facial anomalies and mild developmental delay
Thiel, Christian T.
Doerr, Helmuth-Guenther
Trautmann, Udo
Hoyer, Juliane
Hofmann, Kristin
Kraus, Cornelia
Ekici, Arif B.
Reis, Andre
Rauch, Anita
EUROPEAN JOURNAL OF MEDICAL GENETICS, 2008, 51 (04) : 362 - 367
[10] A Recurrent De Novo Terminal Duplication of 14q32 in Korean Siblings Associated with Developmental Delay and Intellectual Disability, Growth Retardation, Facial Dysmorphism, and Cerebral Infarction: A Case Report and Literature Review
Han, Ji Yoon
Park, Joonhong
GENES, 2021, 12 (09)

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