Results 121 to 130 of about 140,678 (408)

Familial cases of a submicroscopic Xp22.2 deletion : genotype-phenotype correlation in microphthalmia with linear skin defects syndrome [PDF]

, 2013
Purpose: Microphthalmia with linear skin defects syndrome (MLS or MIDAS, OMIM #309801) is a rare X-linked male-lethal disorder characterized by microphthalmia or other ocular anomalies and skin lesions limited to the face and neck.
Claerhout, Ilse, Leroy, Bart, Menten, Björn, Vergult, Sarah   +3 more
core   +2 more sources

Visualizing Turner Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) continues to present a diagnostic challenge to healthcare professionals. The diagnostic challenges associated with TS result in delayed treatment and clinical care. Here we provide an update of the physical appearance of girls and women with TS by presenting clinical photographs and detailed clinical descriptions of 25 ...
Kirstine Stochholm, Astrid Bruun Rasmussen, Anne Skakkebæk   +2 more
wiley   +1 more source

CYTOGENETIC ABNORMALITIES IN PATIENTS WITH PRIMARY AMENORRHEA

Pakistan Armed Forces Medical Journal, 2020
Objective: To determine pattern of different cytogenetic abnormalities found in patients of primary amenorrhea. Study Design: Cross sectional study.
Aysha Khan, Altaf Chaudhry, Hamid Malik, Ayesha Khurshid   +3 more
doaj  

A familial case report of a 13;22 chromosomal translocation with recurrent intracytoplasmic sperm injection failure

Balkan Journal of Medical Genetics, 2018
The importance of cytogenetic analysis in a family with reproductive failure in two siblings is highlighted, where two siblings and their mother presented with a balanced translocation between chromosomes 13;22.
Verma S, Shah R, Bhat A, Bhat GR, Dada R, Kumar R   +5 more
doaj   +1 more source

Heavy metals contaminating the environment of a progressive supranuclear palsy cluster induce tau accumulation and cell death in cultured neurons [PDF]

, 2020
Progressive supranuclear palsy (PSP) is a neurodegenerative disorder characterized by the presence of intracellular aggregates of tau protein and neuronal loss leading to cognitive and motor impairment.
Alquezar, Carolina, Buckley, Brian T., Caparros-Lefebvre, Dominique, Felix, Jessica B., Golbe, Lawrence I., Kao, Aimee W., Karch, Celeste M., McCandlish, Elizabeth   +7 more
core   +2 more sources

Chromosome aberrations detected by conventional karyotyping using novel mitogens in chronic lymphocytic leukemia with "normal" FISH: correlations with clinicobiologic parameters.

Blood, 2012
It is unclear whether karyotype aberrations that occur in regions uncovered by the standard fluorescence in situ hybridization (FISH) panel have prognostic relevance in chronic lymphocytic leukemia (CLL).
G. Rigolin, Francesca Cibien, S. Martinelli, Luca Formigaro, L. Rizzotto, E. Tammiso, E. Saccenti, A. Bardi, F. Cavazzini, M. Ciccone, I. Nichele, G. Pizzolo, F. Zaja, R. Fanin, P. Galieni, Alessia Dalsass, Francesca Mestichelli, Nicoletta Testa, M. Negrini, A. Cuneo   +19 more
semanticscholar   +1 more source

The Impact of Karyotype on Congenital Heart Diseases in Turner Syndrome: A Systematic Review and Meta‐Analysis

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT It is evident that Turner syndrome (TS) impacts almost all developmental stages of the fetal heart with congenital heart disease (CHD) being seen in 23%–50% of individuals. Although the spectrum of CHDs in TS is well‐established, with left‐sided lesions predominating, the influence of specific karyotypes on the prevalence and types of CHDs ...
Francisco Álvarez‐Nava, Melissa L. Crenshaw, Ivonne Bedei, Marisol Soto, Andréa T. Maciel‐Guerra, Anne Skakkebæk   +5 more
wiley   +1 more source

SNP array-based karyotyping: differences and similarities between aplastic anemia and hypocellular myelodysplastic syndromes.

Blood, 2011
In aplastic anemia (AA), contraction of the stem cell pool may result in oligoclonality, while in myelodysplastic syndromes (MDS) a single hematopoietic clone often characterized by chromosomal aberrations expands and outcompetes normal stem cells.
M. Afable, M. Wlodarski, H. Makishima, Mohammed Shaik, M. Sekeres, R. Tiu, M. Kalaycio, C. O'keefe, J. Maciejewski   +8 more
semanticscholar   +1 more source

A case of Turner's syndrome presented with compulsive water drinking and conduct disorder

Archives of Mental Health, 2017
A 17 year aged adolescent female from lower socioeconomic status, presented to the OPD with complaints of excessive water intake. The diagnosis was confirmed as Psychogenic polydipsia (PPD) associated with behavioural problems like conduct disorder, with
Ranjan Bhattacharyya, Madhab Kumar Mondal, Asif Iqbal   +2 more
doaj  

Spectral Karyotyping for identification of constitutional chromosomal abnormalities at a national reference laboratory

Molecular Cytogenetics, 2012
Spectral karyotyping is a diagnostic tool that allows visualization of chromosomes in different colors using the FISH technology and a spectral imaging system.
A. Anguiano, Boris T Wang, Shirong R Wang, F. Boyar, Loretta W. Mahon, Mohamed M El Naggar, P. Kohn, M. Haddadin, V. Sulcova, A. Sbeiti, Mervat S Ayad, B. White, C. Strom   +12 more
semanticscholar   +1 more source