Results 21 to 30 of about 1,853,756 (208)

Multi‐tissue cytogenetic analysis for the diagnosis of mosaic Down syndrome: A case report

Clinical Case Reports, 2022
Less than one percent of individuals with Down syndrome exhibit mosaicism, a biological phenomenon that describes an individual who has two or more genetically distinct cell lines.
Wilberg A. Moncada Arita, Eduardo Smelin Perdomo Domínguez, Astrid Yohaly Rivera Caballero, Nelson A. Espinoza‐Moreno, Mauricio E. Zavala Galeano, Barbara R. DuPont, Héctor M. Ramos‐Zaldívar   +6 more
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Development and disordres in the process of communication of people with the chromosome 13q deletion syndrome

Logopedia Silesiana, 2021
Chromosome 13q deletion syndrome is a kind of chromosome aberration which belongs to rarely occurring genetic abnormalities. Chromosome 13q deletion results in phenotypic disorders such as malfunctions in the central nervous system, anatomical changes of
Ewa Binkuńska
doaj   +1 more source

Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia [PDF]

, 2013
© 2013 Mac Keith Press.Sex chromosome aneuploidies increase the risk of spoken or written language disorders but individuals with specific language impairment (SLI) or dyslexia do not routinely undergo cytogenetic analysis. We assess the frequency of sex
Newbury, Dianne F, Bolton, Patrick F, Paracchini, S., Simpson, N., Simkin, Z., Talcott, J., Scerri, TS, O'Hare, A., Newbury, D., Addis, Laura, Knight, Julian, Fairfax, Benjamin P, Clark, A., Bishop, D. V M, Talcott, JB, Addis, L., Stein, J., Knight, J., Knight, Julian C, Slonims, V., Fairfax, Benjamin P., Slonims, Vicky, O'Hare, Anne, O'Hare, A, Addis, L, ?, ?, Pickles, A., Brandler, WM, Everitt, A., Hennessy, ER, Stein, John, Watson, J, Clark, Ann, Fairfax, BP, Cohen, W., Cowie, H., Conti-Ramsden, G., Paracchini, Silvia, Watson, J., Simpson, Nuala H, Stein, John F., Hennessy, Elizabeth R., Nudel, R., Seckl, J., Bolton, PF, Scerri, Thomas S, Baird, Gillian, Hennessy, E., Simpson, Nuala H., Talcott, Joel B., Talcott, Joel B, Baird, G., SLI Consortium, Brandler, W., Fisher, Simon E, Consortium, Sli, Brandler, William M., Baird, G, Fairfax, B., Knight, Julian C., Fisher, S., Nasir, J., Fisher, SE, Simpson, NH, Conti-Ramsden, G, Conti-Ramsden, Gina, Monaco, A. P., Hennessy, Elizabeth R, Paracchini, S, Scerri, T., Slonims, V, Clark, A, Watson, Jocelynne, Newbury, Dianne F., Brandler, William M, Simonoff, E., Newbury, DF, Fisher, Simon E., Scerri, Thomas S., Bolton, Patrick F., Paracchini, Silvia; id_orcid   +80 more
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Cytogenetic Analysis for Suspected Chromosomal Anomalies- A Retrospective Study [PDF]

Journal of Clinical and Diagnostic Research, 2020
Introduction: The chromosomal anomalies are the most significant cause of human genetic disorders. Various types of structural and numerical chromosome aberrations have been identified in clinically suspect of genetic disorders.
Asoke K Pal, Prafulla S Ambulkar, Jwalant E Waghmare, Moreshwar R Shende, Manish Jain, Poonam Verma Shivkumar   +5 more
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Mean Expression of the X-Chromosome is Associated with Neuronal Density. [PDF]

, 2012
peer reviewedBackground: Neurodegenerative diseases are characterized by key features such as loss of neurons, astrocytosis, and microglial activation/proliferation. These changes cause differences in the density of cell types between control and disease
Pascal F. Durrenberger, James Thomas Swingland, Durrenberger, Pascal F, Swingland, James T., Reynolds, Richard, DEPREZ, Manuel, Pombo, A., Deprez, M, Roncaroli, F, Durrenberger, P.F., David T Dexter, Richard eReynolds, Dexter, DT, Turkheimer, Federico E; id_orcid, Turkheimer, Federico E., James T. Swingland, Ana Pombo, Federico Roncaroli, Turkheimer, FE, Swingland, J.T., Durrenberger, PF, David T. Dexter, Pombo, Ana, Dexter, David T, Durrenberger, Pascal F., Reynolds, R, Turkheimer, F.E., Manuel eDeprez, Swingland, James T, Federico E. Turkheimer, Dexter, D.T., Roncaroli, Federico, Federico eRoncaroli, Richard Reynolds, Reynolds, R., Turkheimer, Federico E, Manuel Deprez, Pombo, A, Pascal F Durrenberger, Ana ePombo, Dexter, David T., Deprez, M., Roncaroli, F., Swingland, JT   +43 more
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Neurodevelopmental Disorders Associated with Chromosome 15 [PDF]

, 1990
Chromosome 15 is a focus of increasing interest to both psychiatry and neurology. Several neurodevelopmental disorders are genetically associated with this autosome, including Prader-Willi syndrome, Angelman syndrome, Dyslexia, Autism, Hyperlexia, Ring ...
Sieg, M.D., Karl G., Karl Sieg
core   +1 more source

Copy number variation screen identifies a rare de novo deletion at chromosome 15q13.1-13.3 in a child with language impairment [PDF]

, 2015
A significant proportion of children (up to 7% in the UK) present with pronounced language difficulties that cannot be explained by obvious causes like other neurological and medical conditions.
Dianne F Newbury, Paracchini, Silvia, Emily Reeves, Charles Hulme, Pettigrew, Kerry A., Hayiou-Thomas, Marianna E., Margaret J Snowling, Simpson, Nuala H., Thompson, Paul A., Paul Thompson, Margaret J. Snowling (782135), Marianna E Hayiou-Thomas, Marianna E. Hayiou-Thomas (782131), Nuala H Simpson, Anahita Sharma, Angela Martinelli (782133), Thompson, Paul; id_orcid, Thompson, Paul, Hulme, Charles, Charles Hulme (782134), Snowling, Margaret J., Ruth Leavett, Silvia Paracchini, Kerry A. Pettigrew (782128), Anahita Sharma (782132), Silvia Paracchini (238619), Emily Reeves (782129), Kerry A Pettigrew, Angela Martinelli, Martinelli, Angela, Newbury, Dianne F., Sharma, Anahita, Ruth Leavett (782130), Dianne F. Newbury (297003), Leavett, Ruth, Paul Thompson (515751), Reeves, Emily, Nuala H. Simpson (703485), Leavett Ruth, Simpson Nuala H., Newbury Dianne F., Hayiou-Thomas Marianna E., Reeves Emily, Hulme Charles, Thompson Paul, Pettigrew Kerry A., Martinelli Angela, Sharma Anahita, Snowling Margaret J., Paracchini Silvia, Paracchini, Silvia; id_orcid   +50 more
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The Association between Serum Biochemical Markers and Early Amniocentesis in Diagnosing Chromosomal Anomalies: A Cross-Sectional Study in Southern Iran, 2021-2022 [PDF]

Iranian Journal of Medical Sciences
Background: Efforts to improve prenatal diagnosis of Down syndrome have been made, with amniocentesis representing an invasive procedure, and maternal serum biochemical markers are among the non-invasive options.
Maryam Kasraeian, Mehdi Dianatpour, Marzie Zare, Marjan Zare, Azam Faraji, Homeira Vafaei, Nasrin Asadi, Khadije Bazrafshan   +7 more
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The developmental consequences of rare chromosome disorders : two case reports [PDF]

, 2010
Aim: As molecular and cytogenetic testing becomes increasingly sophisticated, more individuals are being diagnosed with rare chromosome disorders.
Gilmore, Linda, Danielsson, Henrik, Rönnberg, Jerker, Nilsson, Lars-Göran,, Henry, L.A.   +4 more
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Detection of mosaic chromosomal alterations in children with severe developmental disorders recruited to the DDD study

Genetics in Medicine Open, 2023
Purpose: Structural mosaicism has been previously implicated in developmental disorders. We aimed to identify rare mosaic chromosomal alterations (MCAs) in probands with severe undiagnosed developmental disorders.
Ruth Y. Eberhardt, Caroline F. Wright, David R. FitzPatrick, Matthew E. Hurles, Helen V. Firth   +4 more
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