Results 21 to 30 of about 4,368 (158)

17q21.31 Microduplication Syndrome in a Patient with Autism Spectrum Disorder, Macrocephaly, and Intellectual Disability

Reports, 2023
The chromosome 17q21.31 microduplication syndrome is a rare genetic syndrome presenting with craniofacial dysmorphisms, psychomotor delay, microcephaly, behavioral disorders, and poor social interaction.
Federica Saia, Adriana Prato, Caterina Angela Florio, Vincenzo Paolo Cutrone, Renata Rizzo   +4 more
doaj   +2 more sources

Co-occurrence of Xp21 microduplication encompassing the DMD locus in conjunction with 17p12/PMP22 microduplication in a female with Charcot–Marie–Tooth disease type 1A

Egyptian Journal of Medical Human Genetics, 2015
We report on the molecular detection of two microduplications involving chromosomes Xp21.1–Xp21.2 and 17p12 in a 35-year-old female with clinical phenotype of Charcot–Marie–Tooth disease type 1A (CMT1A) documented by chromosomal microarray analysis.
Alpa Sidhu, Michael Hankerd, Kelly Kennelly, Melissa Kristofice, Salah Ebrahim   +4 more
doaj   +2 more sources

Prenatal Diagnosis and Postnatal Follow‐Up of 19 Fetuses With 16p13.11 Microduplication in a Cohort of 12,038 Pregnancies From South Zhejiang [PDF]

Mol Genet Genomic Med
In this prenatal cohort, 16p13.11 microduplication was associated with variable outcomes and incomplete penetrance. Most live‐born children showed mild or no abnormalities, highlighting the need for cautious interpretation and individualized genetic counseling.
Lv X, Li S, Zhou L, Wang R, Yu Y, Xu C, Xu X, Tang X, Li H.   +8 more
europepmc   +2 more sources

16p13.11 microdeletion/microduplication in fetuses: investigation of associated ultrasound phenotypes, genetic anomalies, and pregnancy outcome follow-up

BMC Pregnancy and Childbirth, 2022
Objectives 16p13.11 microdeletion/microduplication are rare genetic diseases with incomplete penetrance, most of which have been reported in adults and children, with ultrasound phenotyping in fetuses rarely described.
Meiying Cai, Yanting Que, Xuemei Chen, Yuqing Chen, Bin Liang, Hailong Huang, Liangpu Xu, Na Lin   +7 more
doaj   +1 more source

1q44 microdeletion syndrome: A new case with potential additional features [PDF]

Romanian Journal of Medical Practice, 2021
1q44 microdeletion syndrome (1q44 monosomy) is a newly described genetic syndrome characterized by the haploinsufficiency of a 6 Mb locus on the long arm of chromosome 1.
Elena-Silvia SHELBY, Tanser HUSEYINOGLU, Georgeta CARDOS, Liliana PADURE, Andrada MIREA, Madalina LEANCA, Mihaela BADINA, Nadejda BARLADEANU, Florina Mihaela NEDELEA   +8 more
doaj   +1 more source

Diagnostic yield and copy number variants findings in 219 adult patients with developmental and epileptic encephalopathy. [PDF]

Epilepsia
Abstract In a clinical setting, exome sequencing (ES) with copy number variant (CNV) analysis is currently the most effective approach for developmental and epileptic encephalopathies (DEE). However, trio‐based ES is often not feasible in adults, its costs remain prohibitive in certain health care settings, and computational tools for CNV calling still
Licchetta L, Bruschi G, Giangregorio T, Stipa C, Mannini E, Minardi R, Mostacci B, Tontini V, Pippucci T, Bisulli F, Magini P.   +10 more
europepmc   +2 more sources

Case Report: Balanced Reciprocal Translocation t (17; 22) (p11.2; q11.2) and 10q23.31 Microduplication in an Infertile Male Patient Suffering From Teratozoospermia

Frontiers in Genetics, 2022
Two chromosomal abnormalities are described in an infertile man suffering from teratozoospermia: balanced reciprocal translocation t (17; 22) (p11.2; q11.2) and a microduplication in the region 10q23.31.
Shan Huang, Huiling Wu, Yunwei Qi, Liqiang Wei, Xiaodan Lv, Yu He   +5 more
doaj   +1 more source

17p13.3 Microduplication Syndrome: further delineating the clinical spectrum

, 2022
17p13.3 microduplication syndrome has been associated with a clinical spectrum of phenotypes, and depending on the genes involved in the microduplication, it is categorized into two classes (Class I and Class II).
Hani, Abeer, Dirani, Leyla, Awwad, Johnny, Souaid, Mirna, Farra, Chantal, Hamdar, Layal, Abdouni, Lina   +6 more
core   +1 more source

A Diagnosis of Maternal 22q Duplication and Mosaic Deletion following Prenatal Cell-Free DNA Screening

Case Reports in Genetics, 2023
Concurrent microduplication and microdeletion of the chromosome 22q11.2 region are a rarely reported phenomenon. We describe a case of germline 22q11.21 microduplication syndrome with concurrent mosaic 22q11.2 deletion in a pregnant patient, identified ...
Melissa A. Hicks, Emilie Lalonde, Jessica Zoladz, Bernard Gonik, Salah Ebrahim   +4 more
doaj   +1 more source

Case Report: Identification of microduplication in the chromosomal 2p16.1p15 region in an infant suffering from pulmonary arterial hypertension

Frontiers in Cardiovascular Medicine, 2023
This study reports the first case of a patient with chromosomal 2p16.1p15 microduplication syndrome complicated by pulmonary arterial hypertension (PAH).
Xun Wang, Zeying Zhang, Zeying Zhang, Wanyun Zuo, Dan Wang, Fan Yang, Qiming Liu, Yunbin Xiao   +7 more
doaj   +1 more source