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

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.

scholarly journals KANK1-NTRK3 fusions define a subset of BRAF mutation negative renal metanephric adenomas

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Aida Catic ◽  
Amina Kurtovic-Kozaric ◽  
Ardis Sophian ◽  
Lech Mazur ◽  
Faruk Skenderi ◽  
...  
Keyword(s):  
Papillary Renal Cell Carcinoma ◽  
Genetic Alterations ◽  
Chromosome 9 ◽  
Chromosome 15 ◽  
Fish Analysis ◽  
Renal Neoplasm ◽  
Metanephric Adenoma ◽  
Cytogenetic Aberration ◽  
Conventional Cytogenetic Analysis ◽  
Formalin Fixed Paraffin Embedded

Abstract Background Metanephric adenoma (MA) is a rare benign renal neoplasm. On occasion, MA can be difficult to differentiate from renal malignancies such as papillary renal cell carcinoma in adults and Wilms̕ tumor in children. Despite recent advancements in tumor genomics, there is limited data available regarding the genetic alterations characteristic of MA. The purpose of this study is to determine the frequency of metanephric adenoma cases exhibiting cytogenetic aberration t (9;15)(p24;q24), and to investigate the association between t (9,15) and BRAF mutation in metanephric adenoma. Methods This study was conducted on 28 archival formalin fixed paraffin-embedded (FFPE) specimens from patients with pathologically confirmed MA. Tissue blocks were selected for BRAF sequencing and fluorescent in situ hybridization (FISH) analysis for chromosomal rearrangement between KANK1 on chromosome 9 (9p24.3) and NTRK3 on chromosome 15 (15q25.3), which was previously characterized and described in two MA cases. Results BRAFV600E mutation was identified in 62% of our cases, 9 (38%) cases were BRAFWT, and 4 cases were uninformative. Of the 20 tumors with FISH results, two (10%) were positive for KANK1-NTRK3 fusion. Both cases were BRAFWT suggesting mutual exclusivity of BRAFV600E and KANK1-NTRK3 fusion, the first such observation in the literature. Conclusions Our data shows that BRAF mutation in MA may not be as frequent as suggested in the literature and KANK-NTRK3 fusions may account for a subset of BRAFWT cases in younger patients. FISH analysis for KANK1-NTRK3 fusion or conventional cytogenetic analysis may be warranted to establish the diagnosis of MA in morphologically and immunohistochemically ambiguous MA cases lacking BRAF mutations.

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.

Small supernumerary marker chromosome 15 and a ring chromosome 15 associated with a 15q26.3 deletion excluding the IGF1R gene

2017 ◽  
Vol 176 (2) ◽  
pp. 443-449 ◽  
Author(s):  
András Szabó ◽  
Márta Czakó ◽  
Kinga Hadzsiev ◽  
Balázs Duga ◽  
Zsolt Bánfai ◽  
...  
Keyword(s):  
Marker Chromosome ◽  
Ring Chromosome ◽  
Chromosome 15 ◽  
Small Supernumerary Marker Chromosome

Prenatal diagnosis of a de novo small supernumerary marker chromosome 16

2006 ◽  
Vol 66 (S 01) ◽  
Author(s):  
A Kron ◽  
J Trübenbach ◽  
P Vogt ◽  
T Liehr ◽  
T Liehr ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
De Novo ◽  
Marker Chromosome ◽  
Chromosome 16 ◽  
Small Supernumerary Marker Chromosome

Mosaic Small Supernumerary Marker Chromosome Derived from Five Discontinuous Regions of Chromosome 8 in a Patient with Neutropenia and Oral Aphthous Ulcer

2020 ◽  
Vol 160 (1) ◽  
pp. 11-17
Author(s):  
Şule Altıner ◽  
Nüket Yürür Kutlay ◽  
Hatice Ilgın Ruhi
Keyword(s):  
De Novo ◽  
Marker Chromosome ◽  
Peripheral Blood Lymphocytes ◽  
Chromosome 8 ◽  
Aphthous Ulcer ◽  
Small Supernumerary Marker Chromosome ◽  
Aphthous Ulcers ◽  
Chromosome Fragments ◽  
Meiotic Nondisjunction ◽  
Small Supernumerary Marker Chromosomes

Small supernumerary marker chromosomes (sSMCs) are characterized as additional centric chromosome fragments which are too small to be classified by cytogenetic banding alone and smaller than or equal to the size of chromosome 20 of the same metaphase spread. Here, we report a patient who presented with slight neutropenia and oral aphthous ulcers. A mosaic de novo sSMC, which originated from 5 discontinuous regions of chromosome 8, was detected in the patient. Formation of the sSMC(8) can probably be explained by a multi-step process beginning with maternal meiotic nondisjunction, followed by post-zygotic anaphase lag, and resulting in chromothripsis. Chromothripsis is a chromosomal rearrangement which occurs by breakage of one or more chromosomes leading to a fusion of surviving chromosome pieces. This case is a good example for emphasizing the importance of conventional karyotyping from PHA-induced peripheral blood lymphocytes and examining tissues other than bone marrow in patients with inconsistent genotype and phenotype.

A de novo marker chromosome 15 in a child with isolated developmental delay

2020 ◽  
Vol 99 (1) ◽  
Author(s):  
Madhavan Jeevan Kumar ◽  
Kalpana Gowrishankar ◽  
Venkatasubramanian Hemagowri ◽  
Jayarama Kadandale
Keyword(s):  
Developmental Delay ◽  
De Novo ◽  
Marker Chromosome ◽  
Chromosome 15
Sign in / Sign up

Export Citation Format

Share Document