scholarly journals Partial trisomy 4q and monosomy 5p inherited from a maternal translocationt(4;5)(q33;p15) in three adverse pregnancies

2020 ◽  
Author(s):  
Jingbo Zhang ◽  
Bei Zhang ◽  
Tong Liu ◽  
Huihui Xie ◽  
Jingfang Zhai
Keyword(s):  
Prenatal Diagnosis ◽  
Chromosomal Abnormalities ◽  
Genetic Diagnosis ◽  
Partial Trisomy ◽  
Distal Region ◽  
Chromosome 17 ◽  
Chromosome 1 ◽  
Chromosome 4 ◽  
Chromosome 5 ◽  
Balanced Translocation

Abstract Background：Carriers of balanced reciprocal chromosomal translocations are at known reproductive risk for offspring with unbalanced genotypes and resultantly abnormal phenotypes. Once fertilization of a balanced translocation gamete with a normal gamete, the partial monosomy or partial trisomy embryo will undergo abortion, fetal arrest or fetal malformations. We reported a woman with chromosomal balanced translocation who had two adverse pregnancies. Prenatal diagnosis was made for her third pregnancy to provide genetic counseling and guide her fertility. Case presentation：We presented a woman with chromosomal balanced translocation who had three adverse pregnancies. Routine G banding and CNV-seq were used to analyze the chromosome karyotypes and copy number variants of amniotic fluid cells and peripheral blood. The karyotype of the woman was 46,XX,t(4;5)(q33;p15). During her first pregnancy, odinopoeia was performed due to fetal edema and abdominal fluid. The umbilical cord tissue of the fetus was examined by CNV-seq. The results showed a genomic gain of 24.18 Mb at 4q32.3-q35.2 and a genomic deletion of 10.84 Mb at 5p15.2-p15.33 and 2.36 Mb at 15q11.1-q11.2. During her second pregnancy, she did not receive a prenatal diagnosis because a routine prenatal ultrasound examination found no abnormalities. In 2016, she gave birth to a boy.. The karyotype the of the boy was 46,XY,der(5)t(4;5)(q33;p15)mat. The results of CNV-seq showed a deletion of short arm of chromosome 5 capturing regions 5p15.2-p15.33, a copy gain of the distal region of chromosome 4 at segment 4q32.3q35.2, a duplication of chromosome 1 at segment 1q41q42.11 and a duplication of chromosome 17 at segment 17p12. During her third pregnancy, she underwent amniocentesis at 17 weeks of gestation. Chromosome karyotype hinted 46,XY,der(5)t(4;5)(q33;p15)mat. Results of CNV-seq showed a deletion of short arm (p) of chromosome 5 at the segment 5p15.2p15.33 and a duplication of the distal region of chromosome 4 at segment 4q32.3q35.2.Conclusions：Chromosomal abnormalities in three pregnancies were inherited from the mother. Preimplantation genetic diagnosis is recommended to prevent the birth of children with chromosomal abnormalities.

scholarly journals Partial trisomy 4q and monosomy 5p inherited from a maternal translocationt(4;5)(q33;p15) in three adverse pregnancies

2020 ◽  
Author(s):  
Jingbo Zhang ◽  
Bei Zhang ◽  
Tong Liu ◽  
Huihui Xie ◽  
Jingfang Zhai
Keyword(s):  
Prenatal Diagnosis ◽  
Chromosomal Abnormalities ◽  
Genetic Diagnosis ◽  
Partial Trisomy ◽  
Distal Region ◽  
Chromosome 17 ◽  
Chromosome 1 ◽  
Chromosome 4 ◽  
Chromosome 5 ◽  
Balanced Translocation

Abstract Background: Carriers of balanced reciprocal chromosomal translocations are at known reproductive risk for offspring with unbalanced genotypes and resultantly abnormal phenotypes. Once fertilization of a balanced translocation gamete with a normal gamete, the partial monomer or partial trisomy embryo will undergo abortion, fetal arrest or fetal malformations. We reported a woman with chromosomal balanced translocation who had two adverse pregnancies. Prenatal diagnosis was made for her third pregnancy to provide genetic counseling and guide her fertility. Case presentation: We presented a woman with chromosomal balanced translocation who had three adverse pregnancies. Routine G banding and CNV-seq were used to analyze the chromosome karyotypes and copy number variants of amniotic fluid cells and peripheral blood. The karyotype of the woman was 46,XX,t(4;5)(q33;p15). During her first pregnancy, odinopoeia was performed due to fetal edema and abdominal fluid. The umbilical cord tissue of the fetus was examined by CNV-seq. The results showed a genomic gain of 24.18 Mb at 4q32.3-q35.2 and a genomic deletion of 10.84 Mb at 5p15.33-p15.2 and 2.36 Mb at 15q11.1-q11.2. During her second pregnancy, she did not receive a prenatal diagnosis because a routine prenatal ultrasound examination found no abnormalities. In 2016, she gave birth to a boy.. The karyotype the of the boy was 46,XY,der(5)t(4;5)(q33;p15)mat. The results of CNV-seq showed a deletion of short arm of chromosome 5 capturing regions 5p15.33p15.2, a copy gain of the distal region of chromosome 4 at segment 4q32.3q35.2, a duplication of chromosome 1 at segment 1q41q42.11 and a duplication of chromosome 17 at segment 17p12. During her third pregnancy, she underwent amniocentesis at 17 weeks of gestation. Chromosome karyotype hinted 46,XY,der(5)t(4;5)(q33;p15)mat. Results of CNV-seq showed a deletion of short arm (p) of chromosome 5 at the segment 5p15.33p15.2 and a duplication of the distal region of chromosome 4 at segment 4q32.3q35.2.Conclusions: Chromosomal abnormalities in three pregnancies were inherited from the mother. Preimplantation genetic diagnosis is recommended to prevent the birth of children with chromosomal abnormalities.

scholarly journals Partial trisomy 4q and monosomy 5p inherited from a maternal translocationt(4;5)(q33;p15) in three adverse pregnancies

2020 ◽  
Author(s):  
Jingbo Zhang ◽  
Bei Zhang ◽  
Tong Liu ◽  
Huihui Xie ◽  
Jingfang Zhai
Keyword(s):  
Chromosomal Abnormalities ◽  
Genetic Diagnosis ◽  
Partial Trisomy ◽  
Distal Region ◽  
Chromosome 17 ◽  
Chromosome 1 ◽  
Chromosome 4 ◽  
Chromosome 5 ◽  
Balanced Translocation ◽  
Reproductive Risk

Abstract Background Carriers of balanced reciprocal chromosomal translocations are at known reproductive risk for offspring with unbalanced genotypes and resultantly abnormal phenotypes. After fertilization of a balanced translocation carrier with a normal gamete, the partial monomer or partial trisomy embryo will undergo abortion, fetal arrest or fetal malformatio. We reported a woman with balanced translocation who had two adverse pregnancies. Prenatal diagnosis was made for her third pregnancy to provide genetic counseling and guide her fertility. Case presentation Routine G banding was used to analyze the chromosome karyotypes of amniotic fluid, pregnant women and her son in peripheral blood, and then the chromosomal abnormalities were precisely located by CNV-seq detection. The karyotype of the women was 46,XX,t(4;5)(q33;p15). The karyotypethe of the boy was 46,XY,add(5)(p14). CNV-seq was used for further analysis of the structural chromosomal rearrangement in the boy.The results were shown a deletion of short arm of chromosome 5 capturing regions 5p15.33p15.2, a copy gain of the distal region of chromosome 4 at segment 4q32.3q35.2, a duplication of chromosome 1 at segment 1q41q42.11 and a duplication of chromosome 17 at segment 17p12. Amniocentesis was performed at 17 weeks of gestation. Chromosome karyotype hinted 46,XY,add(5)(p14). Further detection of chromosomal aberrations by CNV-seq showed a deletion of short arm (p) of chromosome 5 at the segment 5p15.33p15.2 and a duplication of the distal region of chromosome 4 at segment 4q32.3q35.2. Conclusions Chromosomal abnormalities in three pregnancies were inherited from the mother. Preimplantation genetic diagnosis is recommended to prevent the birth of children with chromosomal abnormalities.

scholarly journals Structural brain imaging abnormalities associated with schizophrenia and partial trisomy of chromosome 5

1992 ◽  
Vol 22 (2) ◽  
pp. 519-524 ◽  
Author(s):  
William G. Honer ◽  
Anne S. Bassett ◽  
G. William MacEwan ◽  
Trevor Hurwitz ◽  
David K. B. Li ◽  
...  
Keyword(s):  
Mental Illness ◽  
Chromosomal Abnormalities ◽  
Partial Trisomy ◽  
Normal Male ◽  
Chromosome 5 ◽  
Balanced Translocation ◽  
Cavum Septum Pellucidum ◽  
Genetic Abnormalities ◽  
Translocation Breakpoints ◽  
The Brain

SYNOPSISChromosomal abnormalities occurring in association with mental illness provide a unique opportunity to study the interaction of genetic abnormalities and the brain in mental illness. Four individuals from a family in which schizophrenia was found to cosegregate with a partial trisomy of chromosome 5 were studied with computed tomography and magnetic resonance imaging. Temporal lobe atrophy was found in the two trisomic males and in the asymptomatic balanced translocation female. In addition, a large cavum septum pellucidum and a cavum vergae were found in the older trisomic individual. Scans from the normal male were free of abnormalities. These results suggest that molecular studies of the translocation breakpoints in this chromosomal abnormality may be of interest, and encourage further studies of brain structure in other chromosomal abnormalities associated with psychosis.

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.

SNP Arrays in Patients with Myelodysplastic Syndromes and Ringed Sideroblasts: A Karyotypic and Disease Association Analysis

Blood ◽  
2008 ◽  
Vol 112 (11) ◽  
pp. 3653-3653
Author(s):  
Rami Khoriaty ◽  
Lukasz P. Gondek ◽  
Bartlomiej P Przychodzen ◽  
Theodore Ghazal ◽  
Abdo Haddad ◽  
...  
Keyword(s):  
Association Analysis ◽  
Chromosomal Abnormalities ◽  
Disease Association ◽  
Chromosome 8 ◽  
Chromosome 7 ◽  
Chromosome 17 ◽  
Refractory Anemia ◽  
P Value ◽  
Chromosome 5 ◽  
Ringed Sideroblasts

Abstract Introduction: The myelodysplastic syndromes (MDS) are a heterogeneous group of clonal hematopoietic stem cell disorders. Ringed sideroblasts (RS) are found in the following subclasses of MDS: refractory anemia with ringed sideroblasts (RARS), refractory cytopenia with multilineage dysplasia and ringed sideroblasts (RCMD-RS), and refractory anemia with ringed sideroblasts associated with marked thrombocytosis (RARS-T). The objective of this study was to evaluate the use of single nucleotide polymorphism (SNP) arrays (SNP-A) in patients with MDS and RS and specifically to compare chromosomal abnormalities detected by metaphase karyotyping (MC) with those detected using high-resolution SNP based karyotyping (which can detect unbalanced genomic lesions in addition to copy-neutral loss of heterozygozity) and to conduct a disease association analysis using the SNP-A. Methods: We reviewed the electronic records of patients with MDS and RS seen at our institution between 2002 and 2008. DNA was extracted using the Puregene DNA Purification Kit. Gene Chip Mapping 250K Assay Kit (Affymetrix) was used. Signal intensity and genotype calls were analyzed using CNAG v.3.0. For the disease association analysis, the Fisher’s p-value was used to compare SNPs found in patients with MDS and RS versus 150 normal controls. Results: 83 patients with MDS who have RS were identified. 40 (48%) had RARS, 25 (30%) had RCMD-RS, and 18 (22%) had RARS-T. The mean age of these patients was 70.7 years, 53 patients (64%) were males, and 70 (84%) were Caucasian. Of those 83 patients, 45 had available DNA for SNP analysis, 23 (51%) of whom had RARS, 11 (24%) had RCMD-RS, and 11 (24%) had RARS-T. The mean age of these 45 patients was 69.9 years, 29 (64%) were males, and 39 (87%) were Caucasian. By MC, 20/45 (44.5%) patients had abnormal karyotypes and 25/45 (55.5%) patients had normal karyotypes. Using SNP-A, chromosomal abnormalities including UPD were identified in 29/45 (64.5%) of patients. Of the 25 pts who had normal karyotypes by MC, 11 (44%) had abnormal karyotypes by SNP-A. The chromosomal distributions of the lesions detected by MC were as follows: chromosome 5 (18.4%), chromosome 7 (15.8%), chromosome 8 (13.1%), chromosome 17, 18, 19, 20, 21 (5.2% in each), and others (26.3 % in total). The distribution of chromosomal lesions detected by SNP-array analysis (excluding UPD) was as follows: chromosome 8 (18.7 %), chromosome 5 (14.6%), chromosome 7 (12.5%), chromosome 17 (10.4%), chromosome 20 (8.3%), chromosome 4 (6.2%), chromosomes 2, 3, 13, 22 (4.1% each), and others (12.5% in total). UPD was found in 12/45 (26.7%) patients mostly affecting chromosome 1 (27.8%). A large number of SNPs were found to be significantly more prevalent in patients with MDS with RS than in controls (with p-value < 0.0001). Genes within 50 kb from these SNPs were scrutinized. At least 11 of those genes (RP1, LIMD1, CHL1, ATP6V1F, TEAD2, SPTLC2, CDH13, DIAPH2, DLEU2, FAM10A4, TRPM8) are known to be related to cancer in the literature. Given that karyotypic abnormalities were more prevalent in chromosomes 8, 5, and 7, we looked specifically at the SNPs in those chromosomes which were significantly associated with disease (rs 409429, rs 446153, rs 453186 and rs 509273 in chromosome 8; rs6891109 in chromosome 5; and rs6970371 in chromosome 7). The genes within 50 kb of these SNPs that are known to be associated with cancer are: RP1 in chromosome 8 (colon cancer), and ATP6V1F in chromosome 7 (prostate cancer). Conclusion: This study shows that SNP-A based karyotyping is a useful tool for karyotyping and can detect more chromosomal abnormalities than MC (64.5 versus 44.5%, odds ratio 1.45). We also found that about half of the patients who had normal karyotypes by MC were found to have karyotypic abnormalities by SNP-A. In addition, we show multiple candidate genes that could be important in the pathogenesis of MDS with RS.

scholarly journals Discrepancy of Karyotype and CMA /NGS in PGD Patient with Cryptical Complex Chromosomal Rearrangement

2021 ◽  
Author(s):  
TING WANG ◽  
Hanbiao Chen ◽  
Jian Lu ◽  
Weiwei Huang ◽  
Huamei Huang ◽  
...  
Keyword(s):  
Chromosomal Abnormalities ◽  
Low Cost ◽  
Chromosome Rearrangement ◽  
Genetic Diagnosis ◽  
Structural Rearrangement ◽  
Balanced Translocation ◽  
Chromosome 10 ◽  
Next Generation Sequencing Ngs ◽  
High Repeatability ◽  
Generation Sequencing

Abstract Background: Complex chromosome rearrangement (CCR) is a structural rearrangement involving more than two breakpoints. CCR carriers are at high risk for phenotypic abnormalities or reproductive failure, such as chromosomal abnormalities in fetuses and infertility.Methods: We presented a carriers with chromosome (3,18) apparent balanced translocation diagnosed in eleswhere, whose fetus had duplications in chromosome 3 and deletions in chromosome 10 demonstrated by chromosome microarray analysis(CMA). Results: Through the high resolution of GTG-banding, a cryptical translocation in chromosome 10 was found and the karyotype of the carrier was revised as 46,XY,t(3;10;18) (p26.3;q26.1;q21.1).In the cycle of preimplantation genetic diagnosis (PGD),21 oocytes were retrieved, and 15 were fertilized. At last 7 embryos were biospied and sent to diagnosis by next generation sequencing(NGS).Unfortunately, none of the NGS results from the 7 biopsy embryos were normal. Combining previous literature and our results, we assessed the odds of a balanced embryo in a CCR carrier to be about 9.3%(28/302).The transferable embryo rate was approximately 71.4%(20/28) and healthy live born delivery rate was 55%(11/20).Conclusions: NGS and CMA featured high automation, relatively low cost, high throughput, and high repeatability, which made them commonly used during prenatal diagnosis and PGD. The multiple technology combination can provide more accurate diagnosis and better fertility services for CCR patients.

O-063 PGT-M, for multi-system genetic diseases

2021 ◽  
Vol 36 (Supplement_1) ◽  
Author(s):  
J Xu
Keyword(s):  
Chromosomal Abnormalities ◽  
Genetic Diseases ◽  
Genetic Diagnosis ◽  
Disease Patient ◽  
Carrier Status ◽  
Balanced Translocation ◽  
Reciprocal Translocations ◽  
Monogenic Disorders ◽  
Pathogenic Genes ◽  
Registration Number

Abstract Abstract text Reciprocal translocations (RecT) and Robertsonian translocations (RobT) are among the most common chromosomal abnormalities that cause infertility and birth defects. In 2017, the Reproductive Medicine Center of the first affiliated Hospital of Zhengzhou University reported a method named "Mapping Allele with Resolved Carrier Status" (MaReCs), which enables chromosomal ploidy screening and resolution of the translocation carrier status of the same embryo. Meanwhile, the first international healthy baby, where the chromosomal balanced translocation that can be transmitted to offspring was precisely blocked by ''MaReCS, was born in our center''. Roche translocation can also delivery healthy babies. Therefore, MaReCs accurately enables the selection of translocation-free embryos from patients carrying chromosomal translocations.In addition, with regard to the monogenic disorders and relative cases, our center used Karyomapping-SNP and NGS technology for preimplantation genetic diagnosis, completed the first Huntington's disease patient in China and delivered a healthy embryos. NGS/Karyomapping PGD can be used to assist pregnancy for all genetic diseases with clear genetic patterns and pathogenic genes. Trial registration number: Study funding: Funding source:

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

Abstract 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.

scholarly journals Chromosomal Abnormality in Fetuses with Isolated Antenatal Hydronephrosis: Update for Prenatal Diagnosis and Genetic Counseling

2020 ◽  
Author(s):  
Xiaoyan Zhou ◽  
Yan Wang ◽  
Lulu Meng ◽  
Jianxin Tan ◽  
Fengchang Qiao ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Chromosomal Abnormalities ◽  
Genetic Diagnosis ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Detection Rates ◽  
Antenatal Hydronephrosis ◽  
Prenatal Genetic Diagnosis ◽  
Group A ◽  
Group B

Abstract Background: The prenatal finding of fetuses with antenatal hydronephrosis (ANH) gives a significant dilemma for the clinicians. Which patients require invasive prenatal diagnosis? Though previous literatures have recommended the use of chromosomal microarray analysis (CMA)for fetuses with CAKUT, the cutoff value for CMA have no current consensus on fetuses with ANH. In this article, we aimed to detect chromosomal abnormalities in fetuses with isolated severe ANH (anterior-posterior renal pelvic diameter (APRPD) ≥ 10mm) by CMA, summarized the literatures and proposed recommendations for the prenatal genetic diagnosis according to APRPD.Methods: Fetuses (n=84) with isolated severe ANH (APRPD ≥ 10mm) were evaluated by CMA. According to APRPD measurements at second trimester, we classified the cases into two groups: (1) Group A: cases with APRPD of 10–15 mm(N=57); (2) Group B: cases with APRPD ≥ 15 mm(N=27).The prenatal and postnatal outcomes were assessed by ultrasonic examination and telephone follow-up.Results: Overall, one case with 18 trisomy was identified. Clinically significant copy number variants (pathogenic or likely pathogenic CNVs) were identified in 11.9% (10/84) cases, including 3.5% (3/84) of pathogenic CNVs. The detection rates were 5.2% (3/57), 25.9% (7/27) for group A and group B, respectively. There was statistically significant differences in the frequency of clinic significant CNVs in the two groups (p＜0.05). Conclusion: CMA is valuable in prenatal genetic diagnosis of fetuses with severe ANH（APRPD ≥ 10mm）, regardless of whether other ultrasonic abnormalities were observed. This cohort should be followed up during the pregnancy.

Sign in / Sign up

Export Citation Format

Share Document