scholarly journals RECIPROCAL TRANSLOCATION t (6; 8) (q25-27; q23): CASE REPORT

2020 ◽  
Vol 55 (04) ◽  
pp. 67-68
Author(s):  
Aytakin Hasanova
Keyword(s):  
Reciprocal Translocation ◽  
Cytogenetic Analysis ◽  
Chromosomal Abnormalities ◽  
Normal Karyotype ◽  
Intrauterine Death ◽  
Reciprocal Translocations ◽  
Recurrent Miscarriages ◽  
Fetal Wastage ◽  
History Of ◽  
Recurrent Abortions

Reciprocal translocations are the most common structural chromosomal abnormalities in humans. In this study, the results of cytogenetic analysis performed on a couple with a reproductive history of three abortions and one intrauterine death referred to our laboratory are presented. Normal karyotype (46, XY) in male and reciprocal translocation 46XX t (6; 8) (q25-27; q23) in female were determined. In about 4% of couples with recurrent miscarriages, one of the parents is either a balanced reciprocal translocation or a robertsonian translocation carrier. Therefore, cytogenetic analysis should be recommended to couples with recurrent miscarriages. Keywords: Recurrent Abortions, Fetal Wastage, Reciprocal Translocation

scholarly journals Chromosomal abnormalities in recurrent miscarriages by conventional karyotyping analysis

2018 ◽  
Vol 18 (2) ◽  
pp. 265-276 ◽  
Author(s):  
Alessandra Bernadete Trovó de Marqui
Keyword(s):  
Genetic Counseling ◽  
Chromosomal Abnormality ◽  
Pregnancy Loss ◽  
Chromosomal Abnormalities ◽  
Recurrent Miscarriage ◽  
Virtual Library ◽  
Reciprocal Translocations ◽  
Recurrent Miscarriages ◽  
Monosomy X ◽  
Products Of Conception

Abstract Objectives: to describe the prevalence and types of chromosomal abnormalities in couples with recurrent miscarriage and products of conception. Methods: electronic searches were performed in the PubMed/Medline database and in the Portal Regional da Biblioteca Virtual em Saúde/BVS (Regional Website of the Virtual Library in Health/BVS) using the descriptors “chromosomal abnormalities and abortions and prevalence”. After applying the inclusion and exclusion criterias, 17 studies were selected. Results: 11 studies were conducted in couples with recurrent miscarriage and six in products of conception. The main results of the couples with recurrent miscarriage were: the frequency of chromosomal abnormalities which varied from 1.23% to 12% and there was a predominance alteration of the chromosomal structures (reciprocal translocations, followed by Robertsonian). In products of conception, the results observed were: the frequency of chromosomal abnormality was above 50% in approximately 70% of the studies; there was a predominance alteration of the numerical chromosomal (trisomy - chromosomes 16, 18, 21 and 22, followed by polyploidy and monosomy X). Conclusions: in summary, cytogenetic alterations represent an importante cause of pregnancy loss and its detection can help couples with genetic counseling. Therefore, the value of knowledge on the prevalence of cytogenetic abnormalities in miscarriage samples is unquestionable, once it is permitted a proper genetic counseling for the couple.

scholarly journals Retrospective analysis of prenatal invasive diagnostic procedures in a tertiary center

2021 ◽  
Vol 3 (1) ◽  
pp. 1-5
Author(s):  
Zeynep Gedik Özköse ◽  
Süleyman Cemil Oğlak ◽  
Mustafa Behram ◽  
Fatma Ölmez ◽  
Sema Süzen Çaypınar ◽  
...  
Keyword(s):  
Chromosomal Abnormalities ◽  
Invasive Procedure ◽  
Normal Karyotype ◽  
Diagnostic Procedures ◽  
Test Results ◽  
Prenatal Diagnostic ◽  
Tertiary Center ◽  
History Of ◽  
Gestational Week ◽  
Us Findings

Objective: This study aimed to analyze the indications and outcomes of prenatal invasive diagnostic procedures performed in a single tertiary center. Materials and Methods: The invasive procedure indications and karyotype results of 1666 pregnant women who underwent prenatal invasive procedures between March 2016 and November 2018 were retrospectively analyzed. The indications and results of prenatal invasive diagnostic procedures were recorded. Results: Amniocentesis (AS) was performed to 1060 (63.6%) patients, corion villus sampling (CVS) to 299 (17.9%), and cordocentesis (CS) to 307 (18.4%) patients. Among the prenatal invasive procedure indications, the most frequent indication was abnormal ultrasound (US) findings, with a rate of 48.3% (n= 805). A normal karyotype was detected in 85% (n= 1416) of the cases, and chromosomal abnormality was detected in 12.2% (n= 204) of the cases. Abnormal karyotype results were found in 111 (10.5%) of 1060 patients who underwent AS, 87 (29.1%) of 299 patients who underwent CVS, and 52 (16.9%) of 307 patients who underwent CS. Among the numerical chromosomal abnormalities, trisomy 21 was the most common abnormality with a rate of 46% (94/204), while inversions were the most common abnormality of structural chromosomal abnormalities at 8.8% (18/204). Conclusion: The results of the current study show that AS is the most common prenatal diagnostic invasive procedure. We obtained the highest fetal chromosomal anomaly rate in patients who experienced CVS. Abnormal US findings were the most common prenatal invasive diagnostic procedure indication in our study. Choosing the most appropriate invasive procedure is related to the obstetricians' experience, medical history of the patient, the gestational week at admission, maternal prenatal serum screening test results, and abnormal US findings.

Cytogenetics and spectral Karyotyping analysis in CLL Patients: Correlation with FISH and ZAP70 Expression

Blood ◽  
2010 ◽  
Vol 116 (21) ◽  
pp. 4844-4844
Author(s):  
Fabio Morato Oliveira ◽  
Daniel Mazza Matos ◽  
Lorena Lobo Figueiredo Pontes ◽  
Belinda Pinto Simoes ◽  
Eduardo M. Rego ◽  
...  
Keyword(s):  
Peripheral Blood ◽  
Cytogenetic Analysis ◽  
Chromosomal Abnormalities ◽  
Conflicts Of Interest ◽  
Karyotype Analysis ◽  
Calf Serum ◽  
Normal Karyotype ◽  
Fish Analysis ◽  
Interphase Cell

Abstract Abstract 4844 Cytogenetic abnormalities play an important role as prognostic factors in CLL. However, due the low mitotic index of CLL B cells in vitro, analysis of a set of subjects for the most commonly known aberrations is usually done by FISH on interphase cell. The objectives of this investigation were the use of the oligonucleotide DSP30 in combination with IL-2, as a B-cell mitogen for cytogenetic investigation in CLL and correlation among the karyotype analysis obtained (G-banding + SKY), FISH profile from unstimulated cells, ZAP70 expression and stratification status for each patient. For metaphase induction, peripheral blood mononuclear cells were cultured in RPMI 1640 medium with 20% fetal calf serum in the presence of the immunostimulatory CpG-oligonucleotide DSP30 and IL-2. Additionally, one set of cell culture was performed for each patient without any stimulant agent, for FISH analysis. The FISH panel included probes for the detection of +12, and deletions of 11q22.3 (ATM), 13q14 (D13S25 and D13S319), and 17p13 (TP53). The cut off levels for trissomy 12 (>2%), del(13q) (>2.4%), del(11q23.3) (>2.5%), del(17p13.1) (>3%) were established according to the iFISH patterns observed in a group of 4 age and sex-matched normal control peripheral blood samples studied with the same probes. Spectral karyotype analysis (SKY) was performed, according manufactures' instruction. The ZAP70 profile was obtained by flow cytometry analysis. In concordance with literature, the cut off value adopted for ZAP70 was 20%. In a group of 64 subjects studied, the cytogenetic analysis showed chromosomal aberrations in 52 patients (81.25%). The profile of abnormalities observed were del(6)(q24), +8(x2), del(11)(q13~q23), +12, +15(x2), del(12)(p13), -17, +21, +19, +18, del(13)(q31), del(14)(q24), del(17)(p13), +21, +4, +5, +11, t(1;12)(q31;p13), t(11;13)(q23;q12), t(15;18)(q11.1;q11), t(1;10)(p22;p14), t(14;22)(q32;q11), t(17;18)(q10;q10), t(9;13)(q21;q22), t(10;13)(q26;q14), t(9;12)(q12;p11), t(X;12)(p11.2;q24). Twelve patients exhibited normal karyotype (18.75%). All subjects presenting chromosomal abnormalities, by using G-banding analysis, were confirmed by SKY. In patients with normal cytogenetic, SKY analysis did not identified any criptic abnormality. Cells without any stimulant agent showed concordance with the cytogenetic profile obtained (FISH analysis). The ZAP70 expression did not show any relationship between the group of patients with chromosomal abnormalities and the group with normal karyotype. The use of the immunostimulatory oligonucleotide DSP30 in combination with IL-2 showed to be effective to induce cell cycle progression of CLL cells in vitro than others mitogens. Cytogenetic aberrations detected by G-banding in addition to FISH analysis were heterogeneous. The limited spectrum of chromosomal abnormalities seen by FISH analysis may contribute to underestimate the prognostic value, where others abnormalities may be present in patient's karyotype. These results indicate that classical cytogenetic analysis can contribute to the stratification of different subsets of CLL patients with complex karyotype associated with poor prognosis. Financial support: FAPESP (Proc. 07/52462-7). Disclosures: No relevant conflicts of interest to declare.

scholarly journals A balanced reciprocal translocation case in family with a history of recurrent abortions: 46,XY,t(4;13)(q31.3;q33)

2012 ◽  
Vol 3 (2) ◽  
Author(s):  
Etem Akbaş ◽  
Hicran Şenli ◽  
Selahittin Çayan ◽  
Zuhal Mert Altıntaş ◽  
Badel Arslan Mamur ◽  
...  
Keyword(s):  
Reciprocal Translocation ◽  
History Of ◽  
Recurrent Abortions

scholarly journals Cytogenetics and Importance of Genetic Counselling in Recurrent Pregnancy Losses: Experience from Tertiary Care Laboratory

2017 ◽  
Vol 9 (1) ◽  
pp. 9
Author(s):  
Shailesh Pande ◽  
Anurita Pais ◽  
Gauri Pradhan ◽  
Yamini Jadhav ◽  
Chaitali Parab ◽  
...  
Keyword(s):  
Chromosomal Abnormalities ◽  
Tertiary Care ◽  
Heterochromatic Region ◽  
Chromosome 9 ◽  
Reciprocal Translocations ◽  
Healthy Baby ◽  
Robertsonian Translocations ◽  
Medical Termination ◽  
Recurrent Pregnancy Losses ◽  
History Of

Loss of pregnancy either naturally or by medical termination is a destructive experience to the couple, especially those experiencing recurrent pregnancy losses (RPL). It is important to rule out the genetic aspect as the cause of pregnancy wastages. This retrospective study aimed to determine the frequency of chromosomal abnormalities and its various cytogenetic types in the samples received by Metropolis Healthcare laboratory, Mumbai. This study was conducted on the samples referred for chromosomal karyotyping with a history of Bad Obstetric History (BOH). The couples who had an experience of two or more pregnancy losses were included in this study. Out of the 2102 samples referred, chromosomal abnormality was recorded in 384 (18.27%) cases. Out of chromosomal abnormal cases, 126 (5.99%) patients had reciprocal translocations out of which 27 (21.43%) were Robertsonian translocations. Inversion of chromosome 9 was seen in 81 (21.09%) patients, while inversion Y in 28 (7.29%) patients,  and polymorphic variation like increase in length of satellite or heterochromatic region recorded in almost 149 (38.30%) patients. Cytogenetic evaluation of couples with recurrent pregnancy losses (RPL) is very important as after knowing the parental chromosomal pattern appropriate counseling can be offered to know the risk of recurrence, option of prenatal diagnosis and also opens the option of reproduction in some cases. This will also help them to have a cytogenetically healthy baby. Since the cytogenetic abnormalities are usually familial, the close blood relatives may also be benefited once the abnormality is detected.

scholarly journals Cytogenetic Analysis and Clinical Phenotype of Primary Amenorrhea in Indonesian Patients

2018 ◽  
Vol 4 (1) ◽  
pp. 22 ◽  
Author(s):  
Aisha Balkhar Ali ◽  
Rita Indriyati ◽  
Tri Indah Winarni ◽  
Sultana MH Faradz
Keyword(s):  
Turner Syndrome ◽  
Cytogenetic Analysis ◽  
Scoring System ◽  
Chromosomal Abnormalities ◽  
Marker Chromosome ◽  
Reliability And Validity ◽  
Normal Karyotype ◽  
Chromosome 1 ◽  
Primary Amenorrhea ◽  
Clinical Criteria

Background: Primary amenorrhea (PA) is a symptom that can be caused by different disorders such as gonadal, endocrinal, physiological and genetic disorders. Aim of study: This study provided the clinical and cytogenetic profiles of Indonesian primary amenorrhea patients and introduced clinical criteria of those patients with their  karyotype results using score system.  Methods: A retrospective descriptive study of 79 PA patients, whom referred to Cytogenetic and Molecular unit Center for Biomedical Research (CEBIOR), Faculty of Medicine Diponegoro University. We made a scoring system consisted of 4 scores, all patients had been distributed to match the scores according to their clinical criterias and then confirmed with the karyotype results.  Results: The karyotype results of 79 patients of PA revealed 55 (69.6%) patients with female karyotype 46,XX; 6 (7.6%) patients with male karyotype 46,XY; 8(10.1%) patients with monosomy X; 3 (3.8%) patients with 45,X/46,XX; 3 (3.8%) patients with  Isochromosome 45 X/46, X,i(Xq). Mosaicism with  Y  constitution 45,X/46,XY  was seen in 2 (2.5%) patients;  marker chromosome 45,X/46,X+mar (2%) in 1 patient (1.3%); and  chromosome 1 and  X translocation 46,XX,t(1;X)(p34;q25) detected in 1(1.3%) patient. Scoring system results showed that all patients with normal karyotype (46,XX/46,XY) were matched with score 1 and 2 while 17 patients with chromosomal abnormalities were matched with score 3 and 4, only 1 patient with mosaic Turner syndrome 45,X(10%)/46,XX(90%) matched score 1. Conclusion: Turner syndrome was the most common cause of primary amenorrhea which attests the importance of cytogenetic analysis for diagnosis of primary amenorrhea patients. The scoring system needs further validated for measuring reliability and validity.

scholarly journals FEATURES OF THE KARYOTYPE OF NORTH CAUCASUS AYRSHIRE DAIRY CATTLE POPULATION: DEFECTS IN REPRODUCTIVE FUNCTIONS

2018 ◽  
Author(s):  
Vladimir TRUKHACHEV ◽  
Sergey OLEYNIK ◽  
Nikolay ZLYDNEV
Keyword(s):  
Dairy Cattle ◽  
Cytogenetic Analysis ◽  
Large Scale ◽  
Chromosomal Abnormalities ◽  
Genetic Load ◽  
Gene Mutations ◽  
North Caucasus ◽  
Reciprocal Translocations ◽  
Theoretical Assumptions ◽  
Ayrshire Breed

One of the ways of improving the genotypes of dairy cattle in Russia is to increase the proportion of the Ayrshire breed, which can be justly claimed to be one of the best dairy breeds in the world. However, due to the prevalence of large-scale breeding technologies, which involves the use of a limited contingent of dairy cattle bulls, including but not limited to the Ayrshire breed, the emergence of new-born calves with various anomalies, including chromosomal, which commonly have a hereditary basis attributable to gene mutations have been observed. Given that the bulk of these anomalies are acquired by recessive inheritance, they may not always manifest themselves in the phenotype and thus represent a hidden genetic load. In recent years, the significance of cytogenetic analysis and karyotyping is becoming increasingly important, not only when considering the theoretical assumptions, but also when solving applied problems aimed at preventing damage to agricultural production. This article presents the results of the cytogenetic analysis of Ayrshire cattle affected by reproductive problems. The following has been established: an absence of changes in the diploid set of the investigated dairy cattle (2n = 60); the presence of aberrant cells, whose frequency of occurrence amounted to 3.6% in the population of 440 head (number of aberrations per aberrant cell researched – 0.036 / 1.0); the absence of reciprocal translocations in the karyotype of the investigated population. It is suggested that the existing Ayrshire sires Hannulan Yaskiyri, Riihiviidan Urho Errant, O.R.Lihting and their descendants do not have a genetic load of chromosomal abnormalities.

scholarly journals Cytogenetic Studies in Acute Myelocytic Leukemia with Special Emphasis on the Occurrence of Ph1 Chromosome

Blood ◽  
1970 ◽  
Vol 36 (4) ◽  
pp. 448-457 ◽  
Author(s):  
J. WHANG-PENG ◽  
E. S. HENDERSON ◽  
T. KNUTSEN ◽  
E. J. FREIREICH ◽  
J. J. GART
Keyword(s):  
Chromosomal Abnormalities ◽  
Bone Marrow Cells ◽  
Blast Crisis ◽  
Normal Karyotype ◽  
Myelogenous Leukemia ◽  
Acute Myelocytic Leukemia ◽  
Myelocytic Leukemia ◽  
Cytogenetic Studies ◽  
History Of ◽  
Marrow Cells

Abstract Cytogenetic studies were carried out on 103 unselected patients with acute myelogenous leukemia (AML) at the Clinical Center of the National Institutes of Health. Seventy-three patients (70.9%) had a normal karyotype and 30 patients (29.1%) were aneuploid. No unique chromosomal abnormalities were found in patients with aneuploidy; however, there was a significantly higher incidence of G group involvement. Four cases had a history of radiation exposure; three of these four patients had a normal karyotype and one had one Ph1 chromosome in her bone marrow cells. Another patient with no history of radiation also had one Ph1 chromosome in his marrow cells. Reclassification of AML patients with Ph1 chromosomes as a rare entity of blast crisis in chronic myelogenous leukemia (CML) rather than as AML’s is proposed. Two patients exhibited the 45 chromosome syndrome before the diagnosis of AML was made. The normal and aneuploid groups had about the same median survival time and same median date from diagnosis to chromosome study; however, none of the patients in the aneuploid group lived longer than 26 months after the date of diagnosis, while seven patients (nearly 10%) in the normal group did so, one living over 112 months.

scholarly journals Association of sperm DNA fragmentation (SDF) with different parameters that may be related to fertility and reproduction

2019 ◽  
Vol 10 (4) ◽  
pp. 3782-3788
Author(s):  
Daad Emad ◽  
Nadia Khalil Al-Rawi ◽  
Sallama Hamid Abbas
Keyword(s):  
Dna Fragmentation ◽  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Sperm Count ◽  
Dna Integrity ◽  
Sperm Dna Fragmentation ◽  
Recurrent Miscarriages ◽  
Sperm Dna ◽  
History Of ◽  
Recurrent Abortions

Aim of study to see the association of the presence of DNA fragmentation in males with smoking, low sperm motility, infertility, and recurrent pregnancy loss. Sperm DNA integrity is an important factor in normal fertilization and embryo development. Test for SDF seems to be a good option for the husband of females with unexplained history of recurrent miscarriages or infertility. DNA damage can be induced by environmental mechanisms like smoking.40 males referred to our genetic laboratory for DNA fragmentation test for different causes, we calculate the incidence of SDF among them and evaluate their conditions regarding association with infertility, recurrent abortions, and also we study their age, smoking and sperm count and motility. 27 patients had positive results, so the incidence of DNA fragmentation was 67.5 %. 8 of 27 their age were more than 35years (29.6%).12 of 27 were smokers (44.4%).15 of 27 had sperm count less than 15 million (55.5%).20 patients of these 27 had a history of infertility (74%).7 patients of 27; their wife had a history of recurrent pregnancy loss (25%).DNA fragmentation associated with low sperm count and motility, smoking, and high incidence of infertility and recurrent miscarriages.

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