Results 21 to 30 of about 43,589 (247)

Pallister-Killian Mosaic Syndrome in an Omani Newborn: A Case Report and Literature Review

Oman Medical Journal, 2019
Pallister-Killian mosaic syndrome (PKS) is a rare sporadic condition with multiple congenital anomalies and intellectual deficits caused by mosaic tissue-limited tetrasomy of the short arm of chromosome 12 (12p). The clinical features are highly variable,
Afaf Elsheikh, Maryam Al Shehhi, Tadakal Mallana Goud, Bashir Itoo, Salma Al Harasi   +4 more
doaj   +1 more source

A novel case of 16q22.3 duplication syndrome in a child with overgrowth: case report and literature review

BMC Medical Genomics, 2023
Background Distal chromosome 16 duplication syndrome (also known as 16q partial trisomy) is a very rare genetic disorder recently described in few clinical reports. 16q trisomy is generally associated with a multisystemic phenotype including intrauterine
Antonino Moschella, Anna Paola Capra, Domenico Corica, Giorgia Pepe, Silvia Di Tommaso, Ester Sallicandro, Malgorzata G. Wasniewska, Silvana Briuglia, Tommaso Aversa   +8 more
doaj   +1 more source

Innovative method for reducing uninformative calls in non-invasive prenatal testing [PDF]

, 2018
Non-invasive prenatal testing or NIPT is currently among the top researched topic in obstetric care. While the performance of the current state-of-the-art NIPT solutions achieve high sensitivity and specificity, they still struggle with a considerable ...
Budis, Jaroslav, Duris, Frantisek, Gazdarica, Juraj, Gazdaricova, Iveta, Harsanyova, Maria, Kucharik, Marcel, Minarik, Gabriel, Nagy, Balint, Radvanszky, Jan, Sekelska, Martina, Strieskova, Lucia, Szemes, Tomas, Szucs, Gabor, Turna, Jan   +13 more
core   +2 more sources

Pregnancy outcome following prenatal diagnosis of chromosomal anomaly: a record linkage study of 26,261 pregnancies [PDF]

, 2016
Previous studies have demonstrated the influence of changes in the age at which women give birth, and of developments in prenatal screening and diagnosis on the number of pregnancies diagnosed and terminated with chromosomal anomalies.
Cooper, Sally-Ann, Jacobs, Myrthe, McGowan, Ruth, Nelson, Scott, Pell, Jill P.   +4 more
core   +1 more source

Mosaic trisomy 12 at amniocentesis: Prenatal diagnosis and molecular genetic analysis

Taiwanese Journal of Obstetrics & Gynecology, 2013
Objective: This study is aimed at prenatal diagnosis of mosaic trisomy 12 and reviewing the literature. Materials and Methods: A 34-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age.
Chih-Ping Chen, Yi-Ning Su, Jun-Wei Su, Schu-Rern Chern, Yu-Ting Chen, Li-Feng Chen, Wayseen Wang   +6 more
doaj   +1 more source

Non-balanced translocation between the short arms of chromosomes 8 and 6 associated with type 1 diabetes mellitus

Endocrinology, Diabetes & Metabolism Case Reports, 2022
We describe a rare case of a girl with an initial diagnostic hypothesis of chromosome 8 trisomy based on clinical findings and karyotyping, which identified a structural change in the short arm of chromosome 8 (46,XX,add(8)(p23)).
Vitor Scalone Netto, Gabriel Bellincanta, Guido de Paula Colares Neto, Nara Michelle de Araujo Evangelista, Carolina Costa Figueiredo, Patricia Salmona, Vânia de Fátima Tonetto-Fernandes   +6 more
doaj   +1 more source

Chromosomal in situ suppression hybridization of immunologically classified mitotic cells in hematologic malignancies [PDF]

, 1992
Chromosomal in situ suppression (CISS) hybridization was performed with library DNA from sorted human chromosomes 8, 9, 15, 17, 21, and 22 on immunologically stained bone marrow cells of four patients with a hematologic neoplasm, including two patients ...
Arnoldus, Cremer, Cremer, Dauwerse, Edwards, Erber, Hopman, Johnson, Jotterand Bellomo, Knuutila, Knuutila, Larramendy, Larramendy, Lichter, Lichter, Marianne Tiainen, Martine Jotterand Bellomo, Patricia Emmerich, Perez Losada, Pinkel, Pinkel, Popp, Sakari Knuutila, Susanne Popp, Tapani Ruutu, Teerenhovi, Thomas Cremer, Valerie Parlier, Wessman, Willard   +29 more
core   +1 more source

Cytogenetic findings at Down syndrome and their correlation with clinical findings

Biomolecules & Biomedicine, 2005
Down syndrome is a genetic state characterized by trisomy of chromosome 21. In the retrospective study for 12 years period (1991-2002) we have conducted correlation between cytogenetics analyses and clinical findings in our centre at 96 male and 83 ...
Amra Ćatović, Sulejman Kendić
doaj   +1 more source

Chromosome 7 and 19 trisomy in cultured human neural progenitor cells. [PDF]

PLoS ONE, 2009
BACKGROUND:Stem cell expansion and differentiation is the foundation of emerging cell therapy technologies. The potential applications of human neural progenitor cells (hNPCs) are wide ranging, but a normal cytogenetic profile is important to avoid the ...
Dhruv Sareen, Erin McMillan, Allison D Ebert, Brandon C Shelley, Julie A Johnson, Lorraine F Meisner, Clive N Svendsen   +6 more
doaj   +1 more source

Errors in chromosome segregation during oogenesis and early embryogenesis [PDF]

, 2010
Errors in chromosome segregation occurring during human oogenesis and early embryogenesis are very common. Meiotic chromosome development during oogenesis is subdivided into three distinct phases.
A Dyban, A Kuliev, A Kuliev, A Mantzouratou, A Pujol, AL Barlow, C Gutierrez-Mateo, C Gutierrez-Mateo, C Staessen, C Tease, C Tease, C Tease, C Yuncken, CM Conn, CM Conn, D Wells, D Wells, E Bendsen, E Fragouli, E Fragouli, E Fragouli, E Fragouli, E Iwarsson, EY Cheng, F Pellestor, F Pellestor, G Sher, HE Hall, J Cohen, J Cozzi, JD Delhanty, JD Delhanty, JD Delhanty, JD Delhanty, KT Jones, L Gianaroli, L Gras, L Voullaire, L Voullaire, L Wilton, M Hultén, M Sandalinas, M Simopoulou, MA Hultén, ML Lenzi, NV Kovaleva, P Platteau, PA Almeida, PA Hunt, R Angell, R Mahmood, S Cupisti, S Evsikov, S Mastenbroek, S Munné, S Munné, S Munné, S Munné, S Munné, S Munné, S Munné, S Munné, T Anahory, T Hassold, TR Oliver, Y Verlinsky   +65 more
core   +1 more source