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

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.

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PATHOLOGICAL FINDINGS IN THE COMPLETE TRISOMY 9 SYNDROME: THREE CASE REPORTS AND REVIEW OF THE LITERATURE

Pediatric and Developmental Pathology ◽

10.2350/06-08-0143 ◽

2006 ◽

Vol preprint (2007) ◽

pp. 1

Author(s):

Joan Ferreres ◽

Silvia Planas ◽

Elena Martínez-Sáez ◽

Teresa Vendrell ◽

Vicente Peg

Keyword(s):

Case Reports ◽

Pathological Findings ◽

Review Of The Literature ◽

Trisomy 9

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A Familial Small Supernumerary Marker Chromosome 15 Associated with Cryptic Mosaicism with Two Different Additional Marker Chromosomes Derived de novo from Chromosome 9: Detailed Case Study and Implications for Recurrent Pregnancy Loss

Cytogenetic and Genome Research ◽

10.1159/000494822 ◽

2018 ◽

Vol 156 (4) ◽

pp. 179-184

Author(s):

Vida Čulić ◽

Ruzica Lasan-Trcić ◽

Thomas Liehr ◽

Igor N. Lebedev ◽

Maja Pivić ◽

...

Keyword(s):

Pregnancy Loss ◽

De Novo ◽

Marker Chromosome ◽

Chromosome 9 ◽

Chromosome 15 ◽

Normal Female ◽

Fish Analysis ◽

Spontaneous Abortions ◽

Small Supernumerary Marker Chromosome ◽

Trisomy 9

We report a case of familial small supernumerary marker chromosome 15 in a phenotypically normal female with 4 recurrent spontaneous abortions and a healthy child. The initial karyotype showed a small, bisatellited, apparently metacentric marker chromosome, 47,XX,+idic(15)(q11.1), maternally inherited. The proband's mother was mosaic for the idic(15)(q11.1) without pregnancy loss. Reexamination of the proband's karyotype revealed cryptic mosaicism for 1 ring and 1 minute chromosome derived de novo from chromosome 9 in 2% of the metaphases. In FISH analysis, the patient's karyotype was mos 47,XX,+idic(15)(q11.1)mat[100]/49,XX,+idic(15)(q11.1)mat,+r(9;9;9;9),+der(9)dn[2]. The second spontaneous abortion had trisomy 9 (47,XX,+9); the third had mosaic trisomy 9 in 21% of the nuclei and isodicentric chromosome 15 in 36% of the nuclei (mos 48,XN,+9,+idic(15)(q11.1)/47,XN,+9/47,XN,+idic(15)(q11.1)/46,XN). The first and fourth abortions were not cytogenetically studied. The cause of the spontaneous abortions in this patient is likely the cryptic mosaicism for ring and minute chromosomes 9, and gonadal mosaicism is most probable, due to the 2 abortions.

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

Journal of Medical Case Reports ◽

10.1186/s13256-021-02848-9 ◽

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.

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Testosterone and Breast Cancer in Transmen: Case Reports, Review of the Literature, and Clinical Observation

Clinical Breast Cancer ◽

10.1016/j.clbc.2018.12.006 ◽

2019 ◽

Vol 19 (2) ◽

pp. e271-e275 ◽

Cited By ~ 8

Author(s):

Sara Tanini ◽

Alessandra D. Fisher ◽

Icro Meattini ◽

Simonetta Bianchi ◽

Jiska Ristori ◽

...

Keyword(s):

Breast Cancer ◽

Clinical Observation ◽

Case Reports ◽

Review Of The Literature

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Prenatal diagnosis of fibular aplasia‐tibial campomelia‐oligosyndactyly syndrome: Two case reports and review of the literature

Journal of Clinical Ultrasound ◽

10.1002/jcu.22969 ◽

2020 ◽

Author(s):

Márcia Marinho ◽

Sara Nunes ◽

Cátia Lourenço ◽

Mónica Melo ◽

Cristina Godinho ◽

...

Keyword(s):

Prenatal Diagnosis ◽

Case Reports ◽

Review Of The Literature

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Coronary artery aneurysm presenting as acute coronary syndrome: two case reports and a review of the literature

Journal of Thrombosis and Thrombolysis ◽

10.1007/s11239-021-02418-2 ◽

2021 ◽

Author(s):

Tuncay Taskesen ◽

Kofi Osei ◽

Justin Ugwu ◽

Russell Hamilton ◽

Mark Tannenbaum ◽

...

Keyword(s):

Acute Coronary Syndrome ◽

Coronary Artery ◽

Coronary Artery Aneurysm ◽

Case Reports ◽

Artery Aneurysm ◽

Review Of The Literature ◽

Coronary Syndrome

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Therapeutic Management of Rare Primary Ovarian Neoplasms: Carcinosarcoma, Leiomyosarcoma, Melanoma and Carcinoid

International Journal of Environmental Research and Public Health ◽

10.3390/ijerph18157819 ◽

2021 ◽

Vol 18 (15) ◽

pp. 7819

Author(s):

Mateusz Kozłowski ◽

Katarzyna Nowak ◽

Agnieszka Kordek ◽

Aneta Cymbaluk-Płoska

Keyword(s):

Clinical Case ◽

Ovarian Neoplasms ◽

Treatment Guidelines ◽

Case Reports ◽

Review Of The Literature ◽

Pharmacological Treatments ◽

International Database ◽

Primary Tumors ◽

Fertility Sparing ◽

Oncological Centers

Carcinosarcoma, leiomyosarcoma, melanoma and carcinoid as primary tumors in the ovary are extremely rare. In this paper, the authors reviewed the literature from 2010 to 2021, based on specific criteria, to analyze the treatment of these rare ovarian neoplasms. We also aimed to verify whether modern therapies have been found in recent years. For this article, 80 papers were finally selected. The vast majority of the articles were clinical case reports. Despite single mentions of new potential pharmacological treatments, surgery (radical or fertility-sparing) is definitely the mainstay of treatment. There are currently no treatment guidelines for these tumors. A review of the literature has revealed the use of various adjuvant treatments. We, therefore, believe that a more detailed understanding of the biology of these tumors is necessary in order to find new target points for treatment. We would like to emphasize the importance of creating an international database of rare ovarian tumors which would make it possible to gather data from various oncological centers and enable further research into these neoplasms.

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Supraclavicular lymph node metastases from distant primary tumors: Case reports and review of the literature

International Journal of Surgery Case Reports ◽

10.1016/j.ijscr.2021.105720 ◽

2021 ◽

Vol 81 ◽

pp. 105720

Author(s):

Youssef Oukessou ◽

Yassir Hammouda ◽

Khadija El Bouhmadi ◽

Redallah Larbi Abada ◽

Mohamed Roubal ◽

...

Keyword(s):

Lymph Node ◽

Lymph Node Metastases ◽

Case Reports ◽

Review Of The Literature ◽

Supraclavicular Lymph Node ◽

Primary Tumors ◽

Node Metastases

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Moraxella lacunata infection accompanied by acute glomerulonephritis

Open Medicine ◽

10.1515/med-2020-0234 ◽

2020 ◽

Vol 15 (1) ◽

pp. 962-967

Author(s):

Nami Sawada ◽

Tamaki Morohashi ◽

Tomokazu Mutoh ◽

Tsukasa Kuwana ◽

Junko Yamaguchi ◽

...

Keyword(s):

Clinical Laboratory ◽

Case Reports ◽

Laboratory Data ◽

Inflammatory Cells ◽

Final Diagnosis ◽

Renal Tissue ◽

Acute Glomerulonephritis ◽

Pathological Findings ◽

Complement Activity ◽

Moraxella Lacunata

AbstractMoraxella lacunata (M. lacunata) is a Gram-negative bacterium, which rarely causes serious infection. This is a rare case report of acute glomerulonephritis diagnosed by pathological findings in a child accompanied by M. lacunata infection. The patient showed hematuria, proteinuria and hyperkalemia requiring emergency hemodialysis. After hospitalization, M. lacunata bacteremia became apparent. Pathological findings showed an increase in glomerulus inflammatory cells and glomerular C3 deposition was observed in the renal tissue biopsy. Final diagnosis was endocapillary proliferative glomerulonephritis. Clinical reports of M. lacunata infection requiring emergency hemodialysis in children are rare. Previous reports have suggested that lowered immune competency with chronic kidney disease may be a risk factor associated with serious invasive cases of M. lacunata infection. However, detailed clinical laboratory data and pathological findings have not been identified in previous case reports. Our case directly indicated complement activity and acute glomerulonephritis with M. lacunata infection. Although there are various causes for acute glomerulonephritis, infection-related glomerulonephritis (IRGN) is an important concept. M. lacunata infection might have a potential risk for IRGN with dysregulation of complement activity leading to serious and invasive clinical conditions than previously considered.

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