Results 51 to 60 of about 4,368 (158)

A novel de novo paracentric inversion [inv(20)(q13.1q13.3)] accompanied by an 11q14.3-q21 microdeletion in a pediatric patient with an intellectual disability

Balkan Journal of Medical Genetics, 2018
A novel de novo paracentric inversion of the long arm of chromosome 20 [inv(20)(q13.1q13.3)], detected by conventional karyotyping in a 14-year-old boy with mental retardation is described. Further investigation by array comparative genomic hybridization
Zachaki S, Kouvidi E, Mitrakos A, Lazaros L, Pantou A, Mavrou A, Tzetis M, Manola KN   +7 more
doaj   +1 more source

Prenatal Microarray Incidentally Diagnoses a Novel Inherited NF1 Intragenic Duplication

Molecular Genetics &Genomic Medicine, Volume 14, Issue 11, November 2026.
Incidental molecular diagnosis of Neurofibromatosis Type 1 when prenatal chromosome microarray detected a duplication encompassing exons 2–36 of the NF1 gene. Pathogenicity was confirmed by RNA analysis. This case identifies a novel pathogenic NF1 duplication and highlights the importance of clinical genetics referral, pre‐test counseling, and informed
Rhiannon Sandow, Gunjan Garg
wiley   +1 more source

A rare intrauterine onset growth retardation syndrome caused by mosaic 19p13.3 microduplication: evaluation of GH/IGF- 1 axis and GH therapy response

The Turkish Journal of Pediatrics, 2021
Background. 19p13.3 microduplication syndrome is a newly defined intrauterine onset growth retardation syndrome characterized by microcephaly, moderate intellectual disability, speech delay, and mild dysmorphic features.
Emre Özer, Birsen Karaman, Nilay Güneş, Olcay Evliyaoğlu, Beyhan Tüysüz   +4 more
doaj   +1 more source

Detection rate and false positive rate for microdeletion and microduplication of artificially affected samples.

, 2017
Detection rate and false positive rate for microdeletion and microduplication of artificially affected samples.
Kyriakos Tsangaras (585075), Achilleas Achilleos (835724), Philippos C. Patsalis (780512), Carolina Sismani (3601283), Maria C. Neofytou (3716716), Petros Mina (780509), Charalambos Loizides (3716707), George Koumbaris (3716710), Marios Ioannides (780511), Elena Kypri (3716719), Anna Keravnou (3716713)   +10 more
core   +1 more source

A Private 16q24.2q24.3 Microduplication in a Boy with Intellectual Disability, Speech Delay and Mild Dysmorphic Features

, 2020
No data on interstitial microduplications of the 16q24.2q24.3 chromosome region are available in the medical literature and remain extraordinarily rare in public databases.
Luigia Cinque, Massimo Carella, Antonio Petracca, Ester Di Muro, Marco Castori, Orazio Palumbo, Pietro Palumbo   +6 more
core   +1 more source

Chromosomal and genetic anomalies in fetuses with nuchal translucency between 3.0 and 3.4 mm: A systematic review and meta‐analysis

Acta Obstetricia et Gynecologica Scandinavica, Volume 105, Issue 11, Page 2148-2157, November 2026.
Fetuses with a nuchal translucency between 3.0 and 3.4 mm showed a high rate of chromosomal anomalies and copy number variants, most of which could potentially be detected through cell‐free DNA. Abstract Introduction To report the prevalence of chromosomal anomalies in fetuses with a nuchal translucency (NT) between 3.0 and 3.4 mm and to assess the ...
Arianna Carta, Lorenza Della Valle, Giuseppe Rizzo, Ilenia Mappa, Giuseppe Maruotti, Maria Elena Flacco, Lamberto Manzoli, Gennaro Cormio, Asma Khalil, Alberto Galindo, Francesco D'Antonio   +10 more
wiley   +1 more source

Number of TACS designed on critical microdeletion/microduplication regions and on reference chromosomes.

, 2017
Number of TACS designed on critical microdeletion/microduplication regions and on reference chromosomes.
Kyriakos Tsangaras (585075), Achilleas Achilleos (835724), Philippos C. Patsalis (780512), Carolina Sismani (3601283), Maria C. Neofytou (3716716), Petros Mina (780509), Charalambos Loizides (3716707), George Koumbaris (3716710), Marios Ioannides (780511), Elena Kypri (3716719), Anna Keravnou (3716713)   +10 more
core   +1 more source

Aortopathy in the 7q11.23 microduplication syndrome [PDF]

, 2015
The 7q11.23 microduplication syndrome, caused by the reciprocal duplication of the Williams-Beuren syndrome deletion region, is a genomic disorder with an emerging clinical phenotype.
Jeanne James, Seema R. Lalani, Stephanie M. Ware, Erin Miller, Arthur S. Aylsworth, Ware, Stephanie, Parrott, Ashley, James, Jeanne, Shikany, Amy, Ashley Parrott, Lalani, Seema, Ferns, Sunita, Hinton, Robert, Lalani, Seema R., Kathleen Kaiser‐Rogers, Aylsworth, Arthur S., Miller, Erin, Robert B. Hinton, Aylsworth, Arthur, Amy Shikany, Kaiser-Rogers, Kathleen, Goldenberg, Paula, Sunita J. Ferns, Ware, Stephanie M., Paula Goldenberg, Hinton, Robert B., Ferns, Sunita J.   +26 more
core   +1 more source

Copy number variation sequencing detection technology for identifying fetuses with abnormal soft indicators: a comprehensive study

Journal of Perinatal Medicine
This study aims to assess the value of copy number variation sequencing (CNV-seq) in prenatal diagnosis of abnormal ultrasound markers to reduce fetal birth defects.
Lu Guangting, Liu Weiwu
doaj   +1 more source

Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study

Journal of Medical Internet Research, 2021
Background16p13.11 microduplication syndrome has a variable presentation and is characterized primarily by neurodevelopmental and physical phenotypes resulting from copy number variation at chromosome 16p13.11.
Li, Jianqiao, Hojlo, Margaret A, Chennuri, Sampath, Gujral, Nitin, Paterson, Heather L, Shefchek, Kent A, Genetti, Casie A, Cohn, Emily L, Sewalk, Kara C, Garvey, Emily A, Buttermore, Elizabeth D, Anderson, Nickesha C, Beggs, Alan H, Agrawal, Pankaj B, Brownstein, John S, Haendel, Melissa A, Holm, Ingrid A, Gonzalez-Heydrich, Joseph, Brownstein, Catherine A   +18 more
doaj   +1 more source