Results 31 to 40 of about 4,368 (158)

Identification of a De Novo Xq26.2 Microduplication Encompassing FIRRE Gene in a Child with Intellectual Disability

Diagnostics, 2020
Long non-coding RNAs (lncRNAs), defined as transcripts of ≥200 nucleotides not translated into protein, have been involved in a wide range of regulatory functions.
Gianmaria Miolo, Laura Bernardini, Anna Capalbo, Anna Favia, Marina Goldoni, Barbara Pivetta, Giovanni Tessitori, Giuseppe Corona   +7 more
doaj   +1 more source

A Novel Microduplication Spanning Exons 8–16 of ATP2C1 That Was Undetectable by Standard Sanger Sequencing in a Japanese Patient With Hailey–Hailey Disease

Frontiers in Medicine, 2020
Hailey–Hailey disease (HHD) is genetic skin disorder characterized by repeated and exacerbated skin lesions in friction regions. ATP2C1, encoding SPCA1, was demonstrated to be the responsible gene for HHD pathogenesis.
Kwesi Teye, Hiroshi Koga, Takahiro Hamada, Mitsuhiro Matsuda, Mikio Ichiki, Sanae Numata, Norito Ishii, Takekuni Nakama, Takekuni Nakama   +8 more
doaj   +1 more source

Case Report: First Case of Non-restrictive Ventricular Septal Defect With Congestive Heart Failure in a Chinese Han Male Infant Carrying a Class II Chromosome 17p13.3 Microduplication

Frontiers in Pediatrics, 2022
Chromosome 17p13.3 microduplication syndrome is considered a multisystem disorder that results in a wide variety of clinical manifestations including dysmorphic facial characteristics, brain structural malformations, developmental restriction, growth ...
Yung-Yu Yang, Chun-Ting Liu, Li-Fan Pai, Chih-Fen Hu, Shyi-Jou Chen, Shyi-Jou Chen, Wan-Fu Hsu   +6 more
doaj   +1 more source

Prenatal diagnosis and molecular cytogenetic characterization of two hereditary chromosomal duplications with favorable outcomes

Clinical and Experimental Obstetrics & Gynecology, 2020
The objective of this study was to report two cases of hereditary chromosomal duplications with favorable outcomes. In both cases, conventional karyotyping showed a normal karyotype.
Y.J. Wu, C.J. Yu, W.H. Tian, Z. Xu
doaj   +1 more source

Identification of microduplications at Xp21.2 and Xq13.1 in neurodevelopmental disorders

Molecular Genetics & Genomic Medicine, 2021
Background Microduplications are a rare cause of disease in X‐linked neurodevelopmental disorders but likely have been under reported due challenges in detection and interpretation. Methods We performed exome sequencing and subsequent microarray analysis
Hannaleena Kokkonen, Auli Siren, Tuomo Määttä, Magda Kamila Kadlubowska, Anushree Acharya, Liz M. Nouel‐Saied, Suzanne M. Leal, Irma Järvelä, Isabelle Schrauwen   +8 more
doaj   +1 more source

Case Report: Neuroblastoma Breakpoint Family Genes Associate With 1q21 Copy Number Variation Disorders

Frontiers in Genetics, 2021
Microduplications and reciprocal microdeletions of chromosome 1q21. 1 and/or 1q21.2 have been linked to variable clinical features, but the underlying pathogenic gene(s) remain unclear.
Lijuan Zhu, Xiaoji Su
doaj   +1 more source

From a developmental atlas to maps of disease origin. [PDF]

Clin Transl Med
Clinical and Translational Medicine, Volume 16, Issue 9, September 2026.
Pan J, Lin Z, Feng J, Zhang G, Fu Z, Huang H, Ding G.   +6 more
europepmc   +2 more sources

Prenatal diagnosis and molecular cytogenetic characterization of Xp22.32p22.31 microduplication in a Chinese family [PDF]

, 2022
Objectives: To explore the relationship between Xp22.32p22.31 microduplication and mental retardation identifiable by chromosomal G-banding and chromosomal microarray analysis (CMA).
Jin, Yan; Department of of child Health Care, Maternal and Child Health Hospital of Hubei Province, Wuhan, Hubei, PR China, Zhang, Juan; Department of Stomatology, Maternal and Child Health Hospital of Hubei Province, Wuhan, Hubei, PR China, Cui, Weixin; Department of Obstetrics, Maternal and Child Health Hospital of Hubei Province, Wuhan, Hubei, PR China, Li, Xi; Department of Gastroenterology, Peking University Shenzhen Hospital, Shenzhen, Guangdong, PR China, Xi Li, Juan Zhang, Yan Jin, Weixin Cui   +7 more
core   +1 more source

Neurodevelopmental Genetic Diseases Associated With Microdeletions and Microduplications of Chromosome 17p13.3

Frontiers in Genetics, 2018
Chromosome 17p13.3 is a region of genomic instability that is linked to different rare neurodevelopmental genetic diseases, depending on whether a deletion or duplication of the region has occurred.
Sara M. Blazejewski, Sarah A. Bennison, Trevor H. Smith, Kazuhito Toyo-oka   +3 more
doaj   +1 more source

The clinical diagnostic utility of array CGH in children with syndromic microcephaly

Annals of Indian Academy of Neurology, 2022
Background: A prospective study using array CGH in children with Syndromic microcephaly from a tertiary pediatric healthcare centre in India. Aim: To identify the copy number variations causative of microcephaly detected through chromosomal array CGH ...
Manisha Goyal, Mohammed Faruq, Ashok Gupta, Divya Shrivastava, Uzma Shamim   +4 more
doaj   +1 more source