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Prenatal Diagnosis and Postnatal Follow-Up of 15 Fetuses With 16p13.11 Microduplication Syndrome [PDF]

Frontiers in Genetics
BackgroundThe clinical phenotypes of 16p13.11 microduplication syndrome have been extensively reported in previous studies, mostly about adults and children, with limited information available on fetal cases.
Hua Jin, Shuxia Zhang, Fei Hou
exaly   +4 more sources

Genetic evaluation and pregnancy outcome of fetuses with digestive system malformations: an eight-year single-center retrospective study [PDF]

Frontiers in Pediatrics
BackgroundLimited reports have investigated the genetic etiology of fetuses with digestive system malformations (DSMs). Our initial aim was to describe supplement data of fetal DSMs and further elucidate the genotype-phenotype correlations in fetuses ...
Jianlong Zhuang, Nan Huang, Wenli Chen, Yu'e Chen   +3 more
doaj   +2 more sources

Prenatal Ultrasound Phenotypic and Genetic Etiology of the 17q12 Microduplication Syndrome

Frontiers in Pediatrics, 2022
BackgroundSeveral studies have reported on the clinical phenotype of the 17q12 microduplication syndrome, a rare autosomal dominant genetic disorder, in children and adults, but few have reported on its prenatal diagnosis.
Liangpu Xu, Meiying Cai, Nan Guo
exaly   +3 more sources

Mosaicism for a 15q11.2 Microduplication With a Normal Euploid Cell Line at Amniocentesis in a Pregnancy With a Favorable Fetal Outcome and Postnatal Decrease of the Aneuploid Cell Line With the Microduplication

Taiwanese Journal of Obstetrics and Gynecology, 2023
Objective: We present mosaicism for a 15q11.2 microduplication with a normal euploid cell line at amniocentesis in a pregnancy with a favorable fetal outcome and postnatal decrease of the aneuploid cell line with the microduplication.
Yen-Ting Pan, Fang-Tzu Wu, Peih-Shan Wu
exaly   +3 more sources

Prenatal diagnosis and molecular cytogenetic analyses of a rare 15q21.3 and 16p11.2 microduplication family [PDF]

Molecular Cytogenetics
Background Copy number variants (CNVs) are an important source of normal and pathogenic genome variations. Microduplication of 15q21.3 is rare and is associated with an increased risk of developmental retardation, corpus callosum hypoplasia, microcephaly,
Fei Zhang, Gaoqi Liao, Xin Wen, Chengcheng Zhang   +3 more
doaj   +2 more sources

A young girl with partial chromosome 15q11.2 microduplication: a case report in Cameroon [PDF]

BMC Pediatrics
Background The 15q11.2 BP1-BP2 microduplication is a rare copy number variant associated with neurodevelopmental disorders, dysmorphic features, and variable expressivity.
Ritha Mbono Betoko, Sophie Dahoun, Gaelle Ntsoli, Frederique Sloan-Bena, Adele Chetcha Bodieu, Jocelyn Tony Nengom, Suzanne Sap   +6 more
doaj   +2 more sources

16p13.11 microduplication in 14 fetuses: prenatal diagnosis and postnatal follow-up [PDF]

Molecular Cytogenetics
Background 16p13.11 Microduplication is a rare genetic disorder with variable expression and incomplete penetrance, primarily reported in adults and children, with limited information available on fetal cases.
Yuchun Pan, Yu Hu, Chonglan Gao, Han Kang, Yifei Chen, Lingxi Wang   +5 more
doaj   +2 more sources

Olfactory dysfunction and submicroscopic abnormalities: unveiling hidden pathologies [PDF]

Frontiers in Molecular Neuroscience
Recent advances in high-resolution genomic technologies have revealed that several syndromes are associated with submicroscopic chromosomal deletions and, less frequently, duplications, thereby substantially contributing to the functional annotation of ...
Katarzyna Bilińska, Magdalena Pasińska, Fernando de Castro   +2 more
doaj   +2 more sources

Case report: Recurrent catatonia in a patient with 17p13.3 microduplication syndrome [PDF]

Frontiers in Psychiatry
Catatonia is a clinically significant syndrome with various etiologies, including genetic factors, that are increasingly recognized. We present a case of recurrent catatonia associated with 17p13.3 microduplication syndrome in a 47-year-old woman with a ...
Ilya Querter, Ilya Querter, Nika Schuermans, Nele Van de Velde, Cisse Geleyn, Annelies Dheedene, Kurt Audenaert, Kurt Audenaert, Chris Baeken, Chris Baeken, Bert Callewaert, Gilbert Lemmens, Gilbert Lemmens   +12 more
doaj   +2 more sources

Extended application of BACs-on-Beads technique in prenatal diagnosis

Archives of Medical Science, 2022
Introduction This study explored the application of bacterial artificial chromosomes (BACs)-on-Beads (BoBs) technique, especially its ability to detect microdeletion/microduplication regions with a single probe.
Shiyu Sun, Zhonghua Zhang, Jing Zhao, Xinqiang Lan   +3 more
doaj   +1 more source