Results 81 to 90 of about 81,066 (200)

Large-scale Oscillation of Structure-Related DNA Sequence Features in Human Chromosome 21

, 2006
Human chromosome 21 is the only chromosome in human genome that exhibits oscillation of (G+C)-content of cycle length of hundreds kilobases (500 kb near the right telomere). We aim at establishing the existence of similar periodicity in structure-related
A. Panjkovich, C. R. Calladine, G. Bernardi, H. C. M. Nelson, H. DeVoe, I. Liebich, J. Filipski, J. Widom, K. Matsuo, Pedro Miramontes, S. Tiwari, T. Cremer, V. R. Chechetkin, V. R. Chechetkin, Wentian Li   +14 more
core   +1 more source

International, collaborative assessment of 146 000 prenatal karyotypes: expected limitations if only chromosome-specific probes and fluorescent in-situ hybridization are used [PDF]

, 2017
The development of chromosome-specific probes (CSP) and fluorescent in-situ hybridization (FISH) has allowed for very rapid identification of selected numerical abnormalities.
Babu, R., Bui, T.H., Ebrahim, S.A.D., Evans, M.I., Henry, G.P., Holzgreve, W., Jackson, L., Johnson, A., Johnson, M.P., Miller, W.A., Miny, P., Nicolaides, K., Peakman, D., Snidjers, R.J., Wapner, R.J.   +14 more
core  

Characterization of the anterior segment in Trisomy 21-associated cataract using ultrasound biomicroscopy

Heliyon
Backgroundobjectives: To compare the structural anatomy of the anterior segment in pediatric Trisomy 21 (T21) subjects with and without cataracts to age-matched controls. Design: Prospective case-control study.
Dhruv M. Shah, Esther M. Xu, Radhika S. Gholap, Zahur F. Sallman, Taylor Kolosky, Moran R. Levin, Sudhir Vashist, Janet L. Alexander   +7 more
doaj   +1 more source

‘Trisomy 21’ [PDF]

Bulletin of the Royal College of Psychiatrists, 1985
openaire   +1 more source

MEIOTIC ORIGIN OF TRISOMY IN NEOPLASM: EVIDENCE IN A CASE OF ERYTROLEUKAEMIA [PDF]

, 2001
Trisomic cells in neoplasms may represent abnormal clones originated from a tissue-confined mosaicism, and arise therefore by a meiotic error. We report on a 16-month-old child with erythroleukaemia (AML-M6), whose marrow karyotype at onset was 48,XX,del(
BONVINI L., DANESINO C., LANINO E., LESZL A., MASERATI E., MINELLI A., MORERIO C., OLIVIERI C., PANARELLO C., PASQUALI F., ROSANDA C.   +10 more
core  

Inv21p12q22del21q22 and intellectual disability [PDF]

, 2012
Chromosomal rearrangements are common in humans. Pericentric inversions are among the most frequent aberrations (1-2%). Most inversions are balanced and do not cause problems in carriers unless one of the breakpoints disrupts important functional genes ...
Almeida, C, Barros, A, Carreira, IM, Dória, S, Lima, V, Madureira, C, Matoso, E, Moura, CP, Oliveira, R, Pinho, MJ, Ramalho, C   +10 more
core  

Cell‐free DNA test for fetal chromosomal abnormalities in multiple pregnancies

Acta Obstetricia et Gynecologica Scandinavica
Introduction This study aimed to report the screening performance of cell‐free DNA (cfDNA) testing for chromosomal abnormalities in twins, triplets, and vanishing twin pregnancies.
Angel H. W. Kwan, Maria Mar Gil, Shuwen Xue, Yvonne K. Y. Kwok, Doris Lau, Joanna Fung, Andrea Chan, Kwong Wai Choy, Tak Yeung Leung, Liona C. Poon   +9 more
doaj   +1 more source

Retinal Dysplasia Mimicking Retinoblastoma. [PDF]

, 2012
Retinal dysplasia represents a congenital disorder characterized by abnormal proliferation of retinal tissue causing leukocoria. We present a case of an infant with bilateral leukocoria, clinically diagnosed as retinoblastoma, followed by enucleation of ...
Joji, A, Ravikumar, HN, Santosh, KV, Vani, R   +3 more
core   +1 more source

Analysis of Second Trimester Maternal Quadruple Screening Test for Trisomy 21 and Trisomy 18

Zdravniški Vestnik, 2014
Background: The second trimester quadruple screening test for foetal chromosomal abnormalities has been carried out in Slovenia since 2006. Our objective was to analyse the quadruple test results, define sensibility and specificity, the positive and ...
Katja Bricelj, Maja Vuković, Ivan Verdenik, Joško Osredkar, Ksenija Geršak   +4 more
doaj  

Characterizing primary transcriptional responses to short term heat shock in Down syndrome.

PLoS ONE
Heat shock stress induces genome-wide changes in transcription regulation, activating a coordinated cellular response to enable survival. We noticed many heat shock genes are up-regulated in blood samples from individuals with trisomy 21.
Joseph F Cardiello, Jessica Westfall, Robin Dowell, Mary Ann Allen   +3 more
doaj   +1 more source