Results 11 to 20 of about 4,368 (158)
Simple, rapid and inexpensive quantitative fluorescent PCR method for detection of microdeletion and microduplication syndromes. [PDF]
PLoS ONE, 2013 Because of economic limitations, the cost-effective diagnosis of patients affected with rare microdeletion or microduplication syndromes is a challenge in developing countries.
Martin Stofanko +5 more
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Epilepsy phenotype in patients with Xp22.31 microduplication [PDF]
Epilepsy and Behavior Case Reports, 2019 The clinical significance of Xp22.31 microduplication is still unclear. We describe a family in which a mother and two children have Xp22.31 microduplication associated with different forms of epilepsy and epileptiform EEG abnormalities.
Mario Brinciotti +5 more
doaj +2 more sources
12q14 microduplication: a new clinical entity reciprocal to the microdeletion syndrome? [PDF]
BMC Medical Genomics, 2020 Background 12q14 microdeletion syndrome is characterized by low birth weight and failure to thrive, proportionate short stature and developmental delay. The opposite syndrome (microduplication) has not yet been characterized.
Sofia Dória +4 more
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A report on seven fetal cases associated with 15q11‐q13 microdeletion and microduplication
Molecular Genetics & Genomic Medicine, 2021 Background The 15q11‐q13 region contains three breakpoints (BP1 to BP3), and copy number variations often occur in the region. Aims 15q11‐q13 microdeletion and microduplication are usually associated with Prader‐Willi and Angelman syndromes, respectively.
Xiuzhu Huang +9 more
doaj +2 more sources
Case Reports in Genetics, 2014 Concurrent cryptic microdeletion and microduplication syndromes have recently started to reveal themselves with the advent of microarray technology. Analysis has shown that low-copy repeats (LCRs) have allowed chromosome regions throughout the genome to ...
Adrian Mc Cormack +4 more
doaj +2 more sources
Detection of a familial 21q22.3 microduplication in a fetus associated with congenital heart defects
Taiwanese Journal of Obstetrics & Gynecology, 2019 Objective: We present a familial 21q22.3 microduplication in a fetus associated with prenatally detected congenital heart defects (CHD). Case report: A 38-year-old woman underwent amniocentesis at 22 weeks of gestation because of sonographic findings of ...
Chih-Ping Chen +6 more
doaj +2 more sources
Molecular Genetics & Genomic Medicine, 2019 Background The bladder exstrophy‐epispadias complex (BEEC) is a congenital malformation of the bladder and urethra. The underlying causes of this malformation are still largely unknown; however, aside from environment, genetics is thought to play an ...
Johanna Lundin +11 more
doaj +2 more sources
Mayer-Rokitansky-Küster-Hauser syndrome associated with 7q11.23 microduplication: A case report
Global Medical GeneticsIntroduction: Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is characterized by the congenital absence of the uterus and vagina in females with 46, XX karyotype. The genetic etiology remains poorly understood.
Gabriela Corassa Rodrigues da Cunha +9 more
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3q29 microduplication syndrome: New evidence for the refinement of the critical region [PDF]
Molecular Genetics & Genomic Medicine, 2023 Background The 3q29 microduplication syndrome is a rare genomic disorder characterized by an extremely variable neurodevelopmental phenotype usually involving a genomic region ranging from 1.6 to 1.76 Mb.
Alessia Bauleo +8 more
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Clinical characterization of chromosome 5q21.1–21.3 microduplication: A case report
Open Medicine, 2020 Chromosomal microdeletions and microduplications likely represent the main genetic etiologies for children with developmental delay or intellectual disability. Through prenatal chromosomal microarray analysis, some microdeletions or microduplications can
Chen Shuang +6 more
doaj +2 more sources