scholarly journals Recurrent spontaneous abortion related to balanced translocation of chromosomes: two case reports

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Xue Wan ◽  
Linyan Li ◽  
Zulin Liu ◽  
Zhenhai Fan ◽  
Limei Yu
Keyword(s):  
Spontaneous Abortion ◽  
Chromosomal Abnormality ◽  
Chromosomal Abnormalities ◽  
Case Reports ◽  
Recurrent Spontaneous Abortion ◽  
Spontaneous Abortions ◽  
Balanced Translocation ◽  
Case Presentation ◽  
Structural Chromosomal Abnormality ◽  
Balanced Translocations

Abstract Background Recurrent spontaneous abortion (RSA) is often idiopathic, but structural chromosomal abnormality is an important nosogenesis. Balanced translocations or inversions can lead to unbalanced gametes depending on the specific recombination and segregation patterns during meiosis. An unbalanced karyotype in the conceptus of a couple when one partner has a structural chromosomal abnormality may result in failure to implant, miscarriage, or ongoing pregnancy of a fetus with an unbalanced karyotype. Case presentation We report two rare Han cases of RSA associated with balanced translocation of chromosomes. In case 1, a women who had had four spontaneous abortions, the karyotype was 46, XX, t (4;7) (q31;q22). In case 2, a women who had two spontaneous abortions and one stillborn fetus, the karyotype was 46, XX, t (3;15) (q12;p11.2), inv (5) (P13q13). The abnormal karyotype was not found in other chromosomes. Conclusions It is very important that couples with more than two miscarriages be provided with chromosomal analysis. Referring couples for karyotyping will rule out or confirm possible hereditary etiology and the source of chromosomal abnormalities in recurrent miscarriages.

scholarly journals Analysis of Genomic Copy Number Variation in Miscarriages During Early and Middle Pregnancy

2021 ◽  
Vol 12 ◽  
Author(s):  
Heming Wu ◽  
Qingyan Huang ◽  
Xia Zhang ◽  
Zhikang Yu ◽  
Zhixiong Zhong
Keyword(s):  
Prenatal Diagnosis ◽  
Old Age ◽  
Chromosomal Abnormality ◽  
Copy Number ◽  
Chromosomal Abnormalities ◽  
Copy Number Variations ◽  
Variants Of Unknown Significance ◽  
Number Variation ◽  
Structural Chromosomal Abnormality ◽  
Numerical Chromosomal Abnormality

The purpose of this study was to explore the copy number variations (CNVs) associated with miscarriage during early and middle pregnancy and provide useful genetic guidance for pregnancy and prenatal diagnosis. A total of 505 fetal specimens were collected and CNV sequencing (CNV-seq) analysis was performed to determine the types and clinical significance of CNVs, and relevant medical records were collected. The chromosomal abnormality rate was 54.3% (274/505), among which the numerical chromosomal abnormality rate was 40.0% (202/505) and structural chromosomal abnormality rate was 14.3% (72/505). Chromosomal monosomy mainly occurred on sex chromosomes, and chromosomal trisomy mainly occurred on chromosomes 16, 22, 21, 15, 13, and 9. The incidence of numerical chromosomal abnormalities in ≥35 year-old age pregnant women was significantly higher than <35 year-old age group. The highest incidence of pathogenic CNV (pCNV) was found in fetuses at ≤6 weeks of pregnancy (5.26%), and the incidence of variants of unknown significance (VOUS) CNVs decreased gradually with the increase of gestational age. The rate of chromosomal abnormalities of fetuses in early pregnancy (59.5%) was higher than that of fetuses in middle pregnancy (27.2%) (p < 0.001). There were 168 genes in VOUS + pCNV regions. 41 functions and 12 pathways (p < 0.05) were enriched of these genes by Gene Ontology (GO) analysis and Kyoto Encyclopedia of Genes and Genomes (KEGG) analysis. Some meaningful genetic etiology information such as genes and pathways has been obtained, it may provide useful genetic guidance for pregnancy and prenatal diagnosis.

Pathological Findings in the Complete Trisomy 9 Syndrome: Three Case Reports and Review of the Literature

2008 ◽  
Vol 11 (1) ◽  
pp. 23-29 ◽  
Author(s):  
Joan C. Ferreres ◽  
Sílvia Planas ◽  
Elena A. Martínez-Sáez ◽  
Teresa Vendrell ◽  
Vicente Peg ◽  
...  
Keyword(s):  
Chromosomal Abnormality ◽  
Case Reports ◽  
Chromosome 9 ◽  
Spontaneous Abortions ◽  
Pathological Findings ◽  
Review Of The Literature ◽  
New Findings ◽  
Trisomy 9 ◽  
Entire Chromosome ◽  
Autopsy Examination

The term “complete trisomy 9” is used to indicate trisomy of the entire chromosome 9 without evidence of mosaicisms. It is a relatively rare chromosomal abnormality because the vast majority of affected pregnancies result in 1st trimester spontaneous abortions. The purpose of this paper is to delineate the complete trisomy 9 syndrome, based on autopsy findings. We performed an exhaustive review of the literature of complete forms of this trisomy with autopsy examination and added 3 new cases from our center with new findings not previously described.

Sairei-to Therapy on Alloimmune Recurrent Spontaneous Abortions and Alloimmune-, Autoimmune Complicated Recurrent Spontaneous Abortions

2010 ◽  
Vol 38 (04) ◽  
pp. 705-712 ◽  
Author(s):  
Takashi Kano ◽  
Masahiko Shimizu ◽  
Takayoshi Kanda ◽  
Yasuyo Hijikata
Keyword(s):  
Spontaneous Abortion ◽  
Recurrent Spontaneous Abortion ◽  
Spontaneous Abortions ◽  
Live Births ◽  
Recurrent Spontaneous Abortions ◽  
Emergency Measure

Alloimmune recurrent spontaneous abortion (RSA) cases that could not be treated with lymphocyte transfusion due to medical and social reasons were treated with Sairei-to therapy as an emergency measure and all four cases resulted in live births. This may show that Sairei-to treatment is effective in preventing alloimmune RSA. The efficacy of Sojyutsu-Sairei-to and Byakujyutsu-Sairei-to on autoimmune RSA has already been proven. When they were used in the treatment of alloimmune-, autoimmune complicated RSA, the abortion prevention rates were 65.4% and 82.3% respectively. These results indicate that Sairei-to is effective in the treatment of alloimmune RSA and alloimmune-, autoimmune complicated RSA.

scholarly journals Calcified Leiomyomata Presenting as Recurrent Pregnancy Loss

2020 ◽  
Vol 2020 ◽  
pp. 1-6
Author(s):  
Mohammad Marwan Alhalabi ◽  
Ameer Kakaje ◽  
Marwan Alhalabi
Keyword(s):  
Spontaneous Abortion ◽  
Rare Case ◽  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Recurrent Spontaneous Abortion ◽  
Osseous Metaplasia ◽  
Spontaneous Abortions ◽  
Secondary Infertility ◽  
Retained Products

Recurrent spontaneous abortion (RSA) is a problem that faces women for a variety of reasons. Although leiomyomata is relatively common, calcified leiomyomata which is called “womb stones” is a very rare cause of RSA. These womb stones are correlated with retained products from conception and osseous metaplasia. We report a very rare case of a large calcified leiomyomata which caused secondary infertility and pregnancy loss of 7 pregnancies due to spontaneous abortions.

scholarly journals Cytogenetic Analysis of the Products of Conception After Spontaneous Abortion in the First Trimester

2021 ◽  
pp. 1-12
Author(s):  
Xueluo Zhang ◽  
Junmei Fan ◽  
Yanhua Chen ◽  
Jun Wang ◽  
Zhijiao Song ◽  
...  
Keyword(s):  
Spontaneous Abortion ◽  
Sex Chromosomes ◽  
Maternal Age ◽  
Chromosomal Abnormalities ◽  
Age Groups ◽  
Low Frequency ◽  
First Trimester ◽  
Spontaneous Abortions ◽  
Induced Abortions ◽  
Transfer Group

In the present study, we retrospectively recruited 340 patients who underwent spontaneous abortions to investigate chromosomal abnormalities of the conception products in the first trimester. We also performed a relevant analysis of clinical factors. Of these patients, 165 had conception products with chromosomal abnormalities, including 135 aneuploidies, 11 triploidies, 10 complex abnormalities, and 9 segmental aneuploidies. The most common abnormal chromosomes were chromosome 16 in the embryo-transfer group and sex chromosomes in the natural-conception group. The most common abnormal chromosomes in all analyzed maternal age groups were sex chromosomes, 16, and 22. The chromosomal abnormality incidence was related to age and number of spontaneous abortions (both <i>p</i> &#x3c; 0.05), but not to number of pregnancies, deliveries, induced abortions, or methods of conception (all <i>p</i> &#x3e; 0.05). The rates of abnormality for chromosomes 12, 15, 20, and 22 increased with age, while the rates for chromosomes 6, 7, 13, and X decreased. In all age groups, aneuploidy was by far the most common abnormality; however, the low-incidence distributions of chromosomal abnormalities were entirely different. Overall, chromosomal aneuploidy was the primary cause of pregnancy loss in the first trimester, and low-frequency abnormalities differed across age subgroups. Chromosomal aberrations were found to be related to maternal age and spontaneous abortion, but not all chromosomal abnormalities increased with age.

scholarly journals Spontaneous haemorrhage of an adrenal angiomyolipoma: case report

2019 ◽  
Vol 25 (1) ◽  
Author(s):  
Danielle Whiting ◽  
Ian Rudd ◽  
Amit Goel ◽  
Seshadri Sriprasad ◽  
Sanjeev Madaan
Keyword(s):  
Case Reports ◽  
Case Presentation ◽  
Open Adrenalectomy ◽  
Large Size ◽  
History Of ◽  
Loin Pain ◽  
Benign Tumours ◽  
Spontaneous Haemorrhage ◽  
Mesenchymal Tumours

Abstract Background Angiomyolipomas are rare mesenchymal tumours arising from the perivascular epithelioid cells consisting of variable amounts of adipose, thick-walled blood vessels and smooth muscle cells. These benign tumours commonly occur in the kidney with only a few case reports of adrenal angiomyolipomas which have the potential to reach a large size and haemorrhage. Case presentation A 45-year-old lady presented with a 3-week history of right loin pain, nausea and vomiting. A CT scan revealed a right adrenal angiomyolipoma measuring 6.3 × 6.8 cm with associated haemorrhage. The lesion was successfully treated with right open adrenalectomy, and histology confirmed the diagnosis of adrenal angiomyolipoma. The patient remained well with no evidence of recurrence at the 36-month follow-up. Conclusion Adrenal angiomyolipomas are rare benign tumours that have the ability to reach a large size and potential to bleed. Here, we report the second case of spontaneous haemorrhage in an adrenal angiomyolipoma, which was successfully treated with open adrenalectomy.

scholarly journals Clozapine-induced stuttering in the absence of known risk factors: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Florence Jaguga
Keyword(s):  
Risk Factors ◽  
Family History ◽  
Side Effect ◽  
Case Reports ◽  
Extrapyramidal Symptoms ◽  
Prior History ◽  
Case Presentation ◽  
Rare Side Effect ◽  
History Of ◽  
Electrophysiological Findings

Abstract Background Stuttering is a rare side effect of clozapine. It has been shown to occur in the presence of one or more factors such as abnormal electrophysiological findings and seizures, extrapyramidal symptoms, brain pathology, and a family history of stuttering. Few case reports have documented the occurrence of clozapine-induced stuttering in the absence of these risk factors. Case presentation A 29-year-old African male on clozapine for treatment-resistant schizophrenia presented with stuttering at a dosage of 400 mg/day that resolved with dose reduction. Electroencephalogram findings were normal, and there was no clinical evidence of seizures. The patient had no prior history or family history of stuttering, had a normal neurological examination, and showed no signs of extrapyramidal symptoms. Conclusion Clinicians ought to be aware of stuttering as a side effect of clozapine, even in the absence of known risk factors. Further research should investigate the pathophysiology of clozapine-induced stuttering.

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