scholarly journals Report of a case with partial trisomy 9 mosaicism

2021 ◽  
Vol 63 (7) ◽  
pp. 7-10
Author(s):  
Thi Hai Hoang ◽  
◽  
Thi Ngoc Lan Hoang ◽  
Thi Ha Vu ◽  
Thi Sim Nguyen ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Clinical Manifestations ◽  
Partial Trisomy ◽  
Chromosome 9 ◽  
Comparative Genomic ◽  
Chromosomal Disorders ◽  
Left Hand ◽  
Trisomy 9 ◽  
Motor Problems ◽  
Data Source

Trisomy 9 syndrome and other related abnormalities such as full or mosaic trisomy 9 are very rare human chromosomal disorders. The disorders cause early pregnancy loss or death within 20 days after the birth which is accompanied by complex birth defects. The case reported here is a 26-year-old female, identified with partial trisomy of chromosome 9 by Array comparative genomic hybridization -aCGH, but has a longer life than reported in the medical literature and can give birth. The patient did not have abnormal mental or motor problems; no morphological ultrasound abnormalities; curved thumb and scattered warts on the left hand; gave birth to a healthy son after three consecutive stillbirths. The report has shown diverse clinical manifestations of trisomy 9 mosaic abnormalities in humans, contributing to a rare data source of trisomy 9 mosaic cases. Since then, improve knowledge of genetic counseling for rare cases of trisomy 9 mosaicism, especially in genetic counseling of prenatal diagnosis.

An unusual combined chromosomal rearrangement in a newborn with multiple congenital malformations due to a balanced parental translocation

2021 ◽  
pp. 51-60
Author(s):  
А.Г. Новикова ◽  
Н.В. Опарина ◽  
В.Г. Антоненко ◽  
М.В. Кубрина ◽  
Ю.Ю. Коталевская ◽  
...  
Keyword(s):  
Reciprocal Translocation ◽  
Congenital Malformations ◽  
Chromosomal Rearrangement ◽  
Clinical Manifestations ◽  
Partial Trisomy ◽  
Chromosome 9 ◽  
Terminal Part ◽  
Chromosome 5 ◽  
Three Generations ◽  
Healthy Carriers

Представлен случай сочетанной хромосомной патологии - частичной трисомии по субтеломерному участку длинного плеча хромосомы 5 и по протяжённому участку хромосомы 9 у новорождённого ребёнка с множественными врождёнными пороками развития и кариотипом 47,XY,t(5;9)(q35;q31),+der(9)t(5;9)(q35;q31)pat. Причиной хромосомного дисбаланса явилось редкое нарушение формирования гамет в мейозе II отца, являющегося носителем аутосомной реципрокной транслокации t(5;9)(q35;q31). Здоровые носители идентичной транслокации t(5;9)(q35;q31) были выявлены в трёх поколениях этой семьи. В статье описаны клинические проявления у пациента, обсуждаются возможные пути формирования такой хромосомной перестройки, а также проводится сравнительная характеристика фенотипических признаков на основе данных литературы. We report on a case of combined chromosomal pathology - partial trisomy on the terminal part of the long arm of chromosome 5 and partial trisomy on chromosome 9 in a newborn with multiple congenital malformations and karyotype 47,XY,t(5;9)(q35;q31),+der(9)t(5;9)(q35;q31)pat. The cause of the chromosomal pathology was a rare abnormality of the formation of gametes in the father’s meiosis II. He is the carrier of the autosomal reciprocal translocation t(5;9)(q35;q31). Healthy carriers of the identical t(5;9)(q35;q31) translocation were identified in three generations of this family. The clinical manifestations of the patient, the possible ways of forming the rearrangement of chromosomes, and the comparison of phenotypes based on the literature data are discussed.

scholarly journals Prevalence and clinical phenotype of the triplicated α-globin genes and its ethnic and geographical distribution in Guizhou of China

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Xi Luo ◽  
Xiang-mei Zhang ◽  
Liu-song Wu ◽  
Jindong Chen ◽  
Yan Chen
Keyword(s):  
Genetic Counseling ◽  
Peripheral Blood ◽  
Clinical Phenotype ◽  
Globin Gene ◽  
Clinical Manifestations ◽  
Gene Mutations ◽  
Guizhou Province ◽  
Globin Genes ◽  
Phenotype Correlation ◽  
Chi Square

Abstract Background α-thalassemia is relatively endemic in Guizhou province of southwestern China. To predict the clinical manifestations of α-globin gene aberration for genetic counseling, we examined the prevalence of the α-globin triplication and the genotype–phenotype correlation in this subpopulation Methods A cohort of 7644 subjects was selected from nine ethnicities covering four regions in Guizhou province of China. Peripheral blood was collected from each participant for routine blood testing and hemoglobin electrophoresis. PCR-DNA sequencing and Gap-PCR were used to identify the thalassemia gene mutations. Chi-square tests and one-way analysis of variance (ANOVA) were used to statistically analyze the data. Results We found that the frequency of α-globin triplication in Guizhou province was 0.772% (59/7644). Genotypically, the αααanti4.2/αα accounted for 0.523% (40/7644), the αααanti3.7/αα for 0.235% (18/7644), and the αααanti3.7/–SEA for 0.013% (1/7644). The αααanti4.2/αα is more prevalent than the αααanti3.7/αα in Guizhou. In addition, the frequency of the HKαα/αα (that by GAP-PCR is like αααanti4.2/-α3.7) was 0.235% (18/7644). Ethnically, the Tujia group presented the highest prevalence (2.47%) of α-globin triplication. Geographically, the highest frequency of the α-globin triplication was identified in Qiannan region (2.23%). Of the triplicated α-globin cases, 5 coinherited with heterozygote β-thalassemia and presented various clinical manifestations of anemia. Conclusions These data will be used to update the Chinese triplicated α-globin thalassemia database and provide insights into the pathogenesis of thalassemia. These findings will be helpful for the diagnosis of thalassemia and future genetic counseling in those regions.

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 Marginal zone B-cell lymphomas of different sites share similar cytogenetic and morphologic features [see comments]

Blood ◽  
1996 ◽  
Vol 87 (1) ◽  
pp. 299-307 ◽  
Author(s):  
J Dierlamm ◽  
S Pittaluga ◽  
I Wlodarska ◽  
M Stul ◽  
J Thomas ◽  
...  
Keyword(s):  
B Cell ◽  
Structural Changes ◽  
Marginal Zone ◽  
Chromosomal Abnormalities ◽  
Molecular Genetic ◽  
Clinical Manifestations ◽  
B Cell Lymphoma ◽  
Partial Trisomy ◽  
Chromosome 1 ◽  
Chromosomal Changes

Clinical, histologic, cytogenetic, and molecular genetic data of 31 patients with extranodal, nodal, and splenic marginal zone B-cell lymphoma (MZBCL) are presented. Despite these variable clinical manifestations, a similar spectrum of morphologic features as well as distinctive immunophenotypic findings were noted. In all cases, a monotypic B-cell proliferation consistently negative for CD5, CD10, and CD23 was found expanding the marginal zone of the B follicle with and without colonization of the follicle centers. Clonal chromosomal abnormalities were detected in 23 of the 31 patients. Recurrent aberrations included whole or partial trisomy 3 (18 cases), trisomy 18 (9 cases), and structural rearrangements of chromosome 1 with breakpoints in 1q21 (9 cases) or 1p34 (6 cases), all of which were seen in extranodal, nodal, as well as splenic MZBCL. Abnormalities of the additional chromosome 3, such as +del(3)(p13),+i(3)(q10), or structural changes involving the distal part of the long arm, were evident in 9 of the 18 cases. All recurrent abnormalities were found in MZBCL more frequently than in other histologic entities of B-cell non-Hodgkin's lymphoma (B-NHL). None of the known lymphoma-associated chromosomal changes or rearrangements of the BCL1, BCL2, BCL3, BCL6, and CMYC genes were detected. We conclude that MZBCL represent a distinct entity of B- NHL with characteristic morphologic and immunophenotypic features and particular chromosomal abnormalities, and that a close histogenetic relationship between extranodal, nodal, and splenic MZBCL is likely, although the clinical presentation may vary.

Clinically advanced penile (pSCC) and male urethral (uSCC) squamous cell carcinoma: A comparative genomic profiling (CGP) study.

2021 ◽  
Vol 39 (6_suppl) ◽  
pp. 2-2
Author(s):  
Philippe E. Spiess ◽  
Douglas A Mata ◽  
Gennady Bratslavsky ◽  
Joseph M Jacob ◽  
Andrea Necchi ◽  
...  
Keyword(s):  
Treatment Options ◽  
Clinical Manifestations ◽  
Notch Pathway ◽  
Mtor Inhibitors ◽  
Parp Inhibitors ◽  
Hpv Infection ◽  
Surface Epithelium ◽  
Comparative Genomic ◽  
Brca1 And Brca2 ◽  
Ccnd1 Amplification

2 Background: Although SCC of the penile skin (pSCC) and the male urethral surface epithelium (uSCC) arise in nearby locations and can feature similar histology, their clinical manifestations, disease course, and surgical and medical treatment options are distinct. We performed CGP on pSCC and uSCC to examine genomic profiles differences. Methods: Tissues obtained from men with clinically advanced pSCC (n = 230) and uSCC (n = 17) underwent hybrid capture-based CGP to evaluate all classes of genomic alterations (GAs). Tumor mutational burden (TMB) was determined on up to 1.1 Mb of sequenced DNA and microsatellite instability (MSI) was determined on up to 114 loci. PD-L1 expression was determined by IHC (Dako 22C3). Results: The median ages were similar in both groups. pSCC exhibited a slightly higher frequency of HPV-16/18 infection (29% vs. 12%, P = .16), although the TP53 mutation frequencies were nearly identical (55% vs. 59%, NS). CDKN2A inactivation (P = .08), CCND1 amplification trending higher and TERT promoter mutations (P = .01) were more frequent in pSCC, potentially indicating prior HPV infection. GAs in NOTCH1 were exclusively identified in pSCC. Potentially actionable GAs identified in both groups included PIK3CA activating mutations (TKIs) as well as pathogenic alterations in FBXW7 and PTEN (MTOR inhibitors). Rare BRCA1 and BRCA2 inactivation (PARP inhibitors) was seen in pSCC only. High-positive PD-L1 staining was elevated in pSCC (34 vs. 14%, P = .06). Although average TMB was similar in both groups, pSCC exhibited an elevated frequency of cases with CD274 ( PD-L1) amplification as well as TMB >10 mut/Mb which are on label for immune checkpoint inhibitor (ICPI) treatment. Conclusions: CGP of pSCC and uSCC identifies opportunities for both targeted and ICPI therapies. Compared to uSCC, pSCC had genomic features more similar to head and neck SCC including slightly increased cell-cycle perturbation, HPV infection, and NOTCH pathway signaling alterations. Further use of CGP in the treatment planning for pSCC and uSCC may be warranted. [Table: see text]

Genomic characterisation of multiple myeloma: study of a Portuguese cohort

2021 ◽  
pp. jclinpath-2020-207204
Author(s):  
Alexandra Couto Oliveira ◽  
Ilda Patrícia Ribeiro ◽  
Luís Miguel Pires ◽  
Ana Cristina Gonçalves ◽  
Artur Paiva ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
Clinical Practice ◽  
Prognostic Value ◽  
Clinical Presentation ◽  
Comparative Genomic Hybridisation ◽  
Comparative Genomic ◽  
Genomic Alterations ◽  
Genomic Complexity ◽  
Genome Wide ◽  
Trisomy 9

Multiple myeloma (MM) genomic complexity reflects in the variable patients’ clinical presentation. Genome-wide studies seem to be a reasonable alternative to identify critical genomic lesions. In the current study, we have performed the genomic characterisation of a Portuguese cohort of patients with MM by array comparative genomic hybridisation. Overall, the most frequently detected alterations were 13q deletions, gains of 1q, 19p, 15q, 5p and 7p and trisomy 9. Even though some identified genomic alterations were previously associated with a prognostic value, other abnormalities remain with unknown, but putative significance for patients’ clinical practice. These genomic alterations should be further assessed as possible biomarkers.

Gene-expression profiling and array-based CGH classify CD4+CD56+ hematodermic neoplasm and cutaneous myelomonocytic leukemia as distinct disease entities

Blood ◽  
2006 ◽  
Vol 109 (4) ◽  
pp. 1720-1727 ◽  
Author(s):  
Remco Dijkman ◽  
Remco van Doorn ◽  
Károly Szuhai ◽  
Rein Willemze ◽  
Maarten H. Vermeer ◽  
...  
Keyword(s):  
Gene Expression ◽  
Expression Profiling ◽  
Molecular Mechanisms ◽  
Expression Profiles ◽  
Plasmacytoid Dendritic Cell ◽  
Chromosome 9 ◽  
Comparative Genomic ◽  
Genomic Amplification ◽  
Myelomonocytic Leukemia ◽  
Hematodermic Neoplasm

Abstract CD4+CD56+ hematodermic neoplasm (CD4+CD56+HN) is an aggressive hematopoietic malignancy with distinct clinicopathologic and immunophenotypic features that commonly involve the skin, bone marrow, and blood. Differentiation from cutaneous myelomonocytic leukemia (c-AML) may be exceedingly difficult and requires extensive phenotyping. The molecular mechanisms involved in the development of CD4+CD56+HN are largely unresolved. Moreover, recurrent chromosomal alterations have not yet been precisely defined in CD4+CD56+HN and c-AML. In the present study an integrated genomic analysis using expression profiling and array-based comparative genomic hybridization (CGH) was performed on lesional skin biopsy samples of patients with CD4+CD56+HN and c-AML. Our results demonstrate that CD4+CD56+HN and c-AML show distinct gene-expression profiles and distinct patterns of chromosomal aberrations. CD4+CD56+HN is characterized by recurrent deletion of regions on chromosome 4 (4q34), chromosome 9 (9p13-p11 and 9q12-q34), and chromosome 13 (13q12-q31) that contain several tumor suppressor genes with diminished expression (Rb1, LATS2). Elevated expression of the oncogenes HES6, RUNX2, and FLT3 was found but was not associated with genomic amplification. We noted high expression of various plasmacytoid dendritic-cell (pDC)–related genes, pointing to the cell of origin of this malignancy.

scholarly journals Clinical Manifestations of Partial Trisomy 4p

2010 ◽  
Vol 13 (2) ◽  
pp. 61-63
Author(s):  
O Demirhan ◽  
F Özgünen ◽  
D Taştemir
Keyword(s):  
De Novo ◽  
Ultrasound Examination ◽  
Clinical Manifestations ◽  
Partial Trisomy ◽  
Defect Analysis ◽  
Chromosome 4 ◽  
Female Fetus ◽  
Dysmorphic Features ◽  
Severe Growth ◽  
Lung And Kidney

Clinical Manifestations of Partial Trisomy 4pWe made the diagnosis prenatally from cytogenetic analysis of amniocytes cultured following amniocentesis performed at 20 weeks' gestation on a woman in whom ultrasound examination of the female fetus showed severe growth retardation, lung and kidney hypoplasia, and a congenital heart defect. Analysis revealed a de novo trisomy of the terminal short arm of chromosome 4 (4p16.1-pter). The parents opted to terminate the pregnancy. Fetopathological examination showed dysmorphic features and other abnormalities consistent with clinical manifestations of partial trisomy 4p.

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