A rare balanced parental t (21q; 21q) Robertsonian translocation that results in Down syndrome in all viable pregnancies

Subramani, V.; Chandra, Vikash; Balakrishanan, Bijoy; Batra, Meenu; Kuriakose, Rekha; Kannoly, Gopinathan

doi:10.5455/2320-1770.ijrcog20150451

Cited by 3 publications

(2 citation statements)

References 9 publications

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“…Small percentages are generally associated with less severe phenotype, as the normal cell line might moderate the effects (Taylor et al, ). Mosaicism is seen in 2%–4% of patients diagnosed with DS (Papavassiliou et al, ), while in prenatal diagnosis the rate ranged from 1%–2% (Taylor et al, ; Vikraman, ). Therefore, 7.45% of trisomy 21 mosaics in the present registry showed a high incidence.…”

Section: Discussionmentioning

confidence: 99%

“…Chromosomal disorders are categorized as numerical or structural abnormalities, affecting autosomes and sex chromosomes. Effects of these disorders are diverse depending on the specific chromosome region involved, such as syndromes, miscarriages, disabling diseases, congenital malformations, facial dysmorphism, intellectual disability, abnormal sexual development, malignancy, among others (Moorthie et al, 2017;Vikraman, 2015). Chromosome segregation during gametogenesis or mitosis during early fetal development, maternal age and environmental factors increase the risk of chromosomal abnormalities (Kim, Lee, Kim, Shim, & Cha, 2013;Mohammed, Shawky, Soliman, & Ahmed, 2011;Moorthie et al, 2017).…”

Section: Introductionmentioning

confidence: 99%

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Multi‐institutional experience of genetic diagnosis in Ecuador: National registry of chromosome alterations and polymorphisms

Paz‐y‐Miño

Yumiceba

Moreta³

et al. 2019

Molec Gen & Gen Med

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Background: Detection of chromosomal abnormalities is crucial in various medical areas; to diagnose birth defects, genetic disorders, and infertility, among other complex phenotypes, in individuals across a wide range of ages. Hence, the present study wants to contribute to the knowledge of type and frequency of chromosomal alterations and polymorphisms in Ecuador. Methods: Cytogenetic registers from different Ecuadorian provinces have been merged and analyzed to construct an open-access national registry of chromosome alterations and polymorphisms. Results: Of 28,806 karyotypes analyzed, 6,008 (20.9%) exhibited alterations. Down syndrome was the most frequent autosome alteration (88.28%), followed by Turner syndrome (60.50%), a gonosome aneuploidy. A recurrent high percentage of Down syndrome mosaicism (7.45%) reported here, as well as by previous Ecuadorian preliminary registries, could be associated with geographic location and admixed ancestral composition. Translocations (2.46%) and polymorphisms (7.84%) were not as numerous as autosomopathies (64.33%) and gonosomopathies (25.37%).Complementary to conventional cytogenetics tests, molecular tools have allowed

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Multi‐institutional experience of genetic diagnosis in Ecuador: National registry of chromosome alterations and polymorphisms

Paz‐y‐Miño

Yumiceba

Moreta³

et al. 2019

Molec Gen & Gen Med

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Genetics of Recurrent Pregnancy Loss

Koifman

Chitayat

Bashiri

2016

Recurrent Pregnancy Loss

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The kariotype variability in children with Down syndrome from the Odesa region

Kulbachuk¹,

Matviiuk²,

Bilokon³

et al. 2021

ZMJ

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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 anomalies. Materials and methods. Studies were conducted between 2013–2018 years in Odesa Specialized Medical Genetic Center. The experimental group was formed of patients with cytogenetically confirmed Down syndrome. Chromosomes were painted according to GTG method and identified according to ISCN 2013. Results. Among patients with Down syndrome, in 93.9 % of cases complete trisomy 21 was observed, the translocation form was in 3.7 %, and the mosaic form was in 2.4 %. Similar results were revealed in the analysis of populations belonging to different ethnic and racial groups. Complete trisomy 21 was accompanied by chromosome rearrangements of other chromosomes or additional modifications of chromosome 21. Changes in the heterochromatin in chromosome 9 were more frequently observed. In total, 5.5 % of examined karyotypes were found with additional heterochromatin in both arms of chromosome 1 and in the long arm of chromosome 21. An increase in the size of satellites in chromosomes 14, 15 and more often 21, as well as the appearance of additional satellites in chromosome 2 represented 3.6 % of the total examined karyotypes. A deletion on chromosome 6 involved in translocation with chromosome 13 also was found. Translocation forms included Robertsonian translocations involving chromosomes 21 and 21, 14 and 21, as well as translocations involving chromosomes 21 and 21, 21 and 22. Patients with a mosaic form of the disease had two cell lines: with a normal karyotype 3 (15–67 % of the studied cells) and with complete trisomy 21 without additional chromosomal abnormalities (33–85 % of the studied cells). Conclusions. Among patients with cytogenetically confirmed diagnosis of Down syndrome, the ratio of the main variants was similar to many populations studied. At the same time, additional changes in the karyotype were identified which can either be a variant of the norm or aggravate the course of the disease. This requires further studies of the disease course in such patients.

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A rare balanced parental t (21q; 21q) Robertsonian translocation that results in Down syndrome in all viable pregnancies

Cited by 3 publications

References 9 publications

Multi‐institutional experience of genetic diagnosis in Ecuador: National registry of chromosome alterations and polymorphisms

Multi‐institutional experience of genetic diagnosis in Ecuador: National registry of chromosome alterations and polymorphisms

Genetics of Recurrent Pregnancy Loss

The kariotype variability in children with Down syndrome from the Odesa region

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