A neonate with a unique non-Down syndrome transient proliferative megakaryoblastic disease [PDF]
, 2017 Transient myeloproliferative disorder (TMD) is a leukemia type that occurs typically in newborns. In Down syndrome, TMD is referred to as transient abnormal myelopoiesis (TAM).32 Recently, transientness has also been reported in acute myeloid leukemia ...
Apollonsky +18 more
core +4 more sources
Increased incidence of cytogenetic abnormalities in chorionic villus samples from pregnancies established by in vitro fertilization and embryo transfer (IVF-ET) [PDF]
, 1995 We studied 201 pregnancies that were established by in vitro fertilization and embryo transfer (IVF–ET) and compared the frequency of cytogenetic abnormalities with that found in a large control population matched for indication group (advanced maternal ...
Berg, C.D.F. (Cardi) van den +8 more
core +1 more source
Trisomy 18 and trisomy 21 mosaicism in a Down's syndrome patient. [PDF]
Journal of Medical Genetics, 1994 A male child with typical features of Down's syndrome and mosaicism of two trisomic cell lines, trisomy 18 (84%) and trisomy 21 (16%), is reported. Non-disjunction or anaphase lag of chromosomes 18 and 21 could be the cause.
I M, Thomas +3 more
openaire +2 more sources
SNP array typing provides new insights in chromosomal nondisjunction [PDF]
, 2017 Background Maternal uniparental disomy (UPD) of chromosome 7 (upd(7)mat) accounts for approximately 10% of patients with Silver-Russell syndrome (SRS).
Begemann, Matthias +8 more
core +1 more source
Distribusi Penderita Sindrom Down Berdasarkan Analisis Sitogenetika Di Laboratorium CEBIOR [PDF]
, 2015 Background : Down syndrome is a condition when a person has an extra number of chromosomes 21 in the form of either classical trisomy 21, translocation or mosaic.
Berlinda, Impi +2 more
core +2 more sources
Array comparative genomic hybridization analyses of all blastomeres of a cohort of embryos from young IVF patients revealed significant contribution of mitotic errors to embryo mosaicism at the cleavage stage [PDF]
, 2014 published_or_final_versio
Chow, JFC +5 more
core +1 more source
Complex chromosome rearrangement in a child with microcephaly, dysmorphic facial features and mosaicism for a terminal deletion del(18)(q21.32-qter) investigated by FISH and array-CGH: Case report [PDF]
, 2008 We report on a 7 years and 4 months old Greek boy with mild microcephaly and dysmorphic facial features. He was a sociable child with maxillary hypoplasia, epicanthal folds, upslanting palpebral fissures with long eyelashes, and hypertelorism.
Kokotas Haris +10 more
core +2 more sources
The kariotype variability in children with Down syndrome from the Odesa region
Zaporožskij Medicinskij Žurnal, 2021 The kariotype variability in children with Down syndrome from the Odesa region The aim of the work is to analyze the frequency of cytogenetic variants of Down syndrome among patients in Odesa and the region, as well as to identify combined karyotype ...
N. V. Kulbachuk +3 more
doaj +1 more source
Mutations in the RB1 Gene in Argentine Retinoblastoma Patients and Uncommon Clinical Presentations [PDF]
, 2015 Background: Retinoblastoma, the most common ocular cancer of childhood, is caused by inactivation of the RB1 tumor suppressor gene in the developing retina.
Alonso, Cristina +6 more
core +1 more source
Frontiers in Genetics, 2022 The sequencing of cell-free fetal DNA in the maternal plasma through non-invasive prenatal testing (NIPT) is an accurate genetic screening test to detect the most common fetal aneuploidies during pregnancy.
Agnese Feresin +16 more
doaj +1 more source