journal
https://read.qxmd.com/read/38519962/family-case-of-potocki-lupski-syndrome
#1
JOURNAL ARTICLE
L N Kolbasin, T A Dubrovskaya, G B Salnikova, E N Solovieva, M Yu Donnikov, R A Illarionov, A S Glotov, L V Kovalenko, L D Belotserkovtseva
BACKGROUND: Potocki-Lupski syndrome (PTLS, OMIM # 610883) is a rare genetic developmental disorder resulting from a partial heterozygous microduplication at chromosome 17p11.2. The condition is characterized by a wide variability of clinical expression, which can make its clinical and molecular diagnosis challenging. CASE PRESENTATION: We report here a family (mother and her two children) diagnosed with PTLS. When examining children, neurological and psychological (neuropsychiatric) manifestations (speech delay, mild mental retardation), motor disorders, craniofacial dysmorphism (microcephaly, dolichocephaly, triangular face, wide bulging forehead, long chin, antimongoloid slant, "elfin" ears) were revealed...
March 22, 2024: Molecular Cytogenetics
https://read.qxmd.com/read/38486332/11p13-microduplication-a-differential-diagnosis-of-silver-russell-syndrome
#2
JOURNAL ARTICLE
Asmaa K Amin, Jeremias Krause, Thomas Eggermann
BACKGROUND: Silver-Russel syndrome (SRS) is a congenital disorder which is mainly characterized by intrauterine and postnatal growth retardation, relative macrocephaly, and characteristic (facial) dysmorphisms. The majority of patients shows a hypomethylation of the imprinting center region 1 (IC1) in 11p15 and maternal uniparental disomy of chromosome 7 (upd(7)mat), but in addition a broad spectrum of copy number variations (CNVs) and monogenetic variants (SNVs) has been reported in this cohort...
March 14, 2024: Molecular Cytogenetics
https://read.qxmd.com/read/38369498/identification-of-chromosomal-abnormalities-in-miscarriages-by-cnv-seq
#3
JOURNAL ARTICLE
Yuqi Shao, Saisai Yang, Lin Cheng, Jie Duan, Jin Li, Jiawei Kang, Fang Wang, Juan Liu, Fang Zheng, Jianhong Ma, Yuanzhen Zhang
OBJECTIVE: The primary object of this study is to analyze chromosomal abnormalities in miscarriages detected by copy number variants sequencing (CNV-Seq), establish potential pathways or genes related to miscarriages, and provide guidance for birth health in the following pregnancies. METHODS: This study enrolled 580 miscarriage cases with paired clinical information and chromosomal detection results analyzed by CNV-Seq. Further bioinformatic analyses were performed on validated pathogenic CNVs (pCNVs)...
February 18, 2024: Molecular Cytogenetics
https://read.qxmd.com/read/38291465/chromosomal-microarray-analysis-for-prenatal-diagnosis-of-uniparental-disomy-a-retrospective-study
#4
JOURNAL ARTICLE
Chenxia Xu, Miaoyuan Li, Tiancai Gu, Fenghua Xie, Yanfang Zhang, Degang Wang, Jianming Peng
BACKGROUND: Chromosomal microarray analysis (CMA) is a valuable tool in prenatal diagnosis for the detection of chromosome uniparental disomy (UPD). This retrospective study examines fetuses undergoing invasive prenatal diagnosis through Affymetrix CytoScan 750 K array analysis. We evaluated both chromosome G-banding karyotyping data and CMA results from 2007 cases subjected to amniocentesis. RESULTS: The detection rate of regions of homozygosity (ROH) ≥ 10 Mb was 1...
January 30, 2024: Molecular Cytogenetics
https://read.qxmd.com/read/38178226/contribution-of-genetic-variants-to-congenital-heart-defects-in-both-singleton-and-twin-fetuses-a-chinese-cohort-study
#5
JOURNAL ARTICLE
Shaobin Lin, Shanshan Shi, Jian Lu, Zhiming He, Danlun Li, Linhuan Huang, Xuan Huang, Yi Zhou, Yanmin Luo
BACKGROUND: The contribution of genetic variants to congenital heart defects (CHDs) has been investigated in many postnatal cohorts but described in few prenatal fetus cohorts. Overall, specific genetic variants especially copy number variants (CNVs) leading to CHDs are somewhat diverse among different prenatal cohort studies. In this study, a total of 1118 fetuses with confirmed CHDs were recruited from three units over a 5-year period, composing 961 of singleton pregnancies and 157 of twin pregnancies...
January 4, 2024: Molecular Cytogenetics
https://read.qxmd.com/read/38173004/maternal-uniparental-disomy-for-chromosome-6-in-2-prenatal-cases-with-iugr-case-report-and-literature-review
#6
JOURNAL ARTICLE
Yan Jiang, Yang Xue Xiao, Jiao Jiao Xiong, Victor Wei Zhang, Chang Dong, Lei Xu, Fang Liu
BACKGROUND: Uniparental disomy (UPD) is a rare genetic condition leading to potential disease risks. Maternal UPD of chromosome 6 upd(6)mat is exceptionally rare, with limited cases reported. This study reported two new cases of upd(6)mat and reviewed the literature of previous cases. CASE PRESENTATION: Both cases exhibited intrauterine growth restriction (IUGR), and genetic analysis confirmed upd(6)mat in each case. The literature review identified a total of 19 cases...
January 3, 2024: Molecular Cytogenetics
https://read.qxmd.com/read/38129867/characteristics-and-clinical-evaluation-of-x-chromosome-translocations
#7
JOURNAL ARTICLE
Ning Huang, Jihui Zhou, Wan Lu, Laipeng Luo, Huizhen Yuan, Lu Pan, Shujun Ding, Bicheng Yang, Yanqiu Liu
BACKGROUND: Individuals with X chromosomal translocations, variable phenotypes, and a high risk of live birth defects are of interest for scientific study. These characteristics are related to differential breakpoints and various types of chromosomal abnormalities. To investigate the effects of X chromosome translocation on clinical phenotype, a retrospective analysis of clinical data for patients with X chromosome translocation was conducted. Karyotype analysis plus endocrine evaluation was utilized for all the patients...
December 21, 2023: Molecular Cytogenetics
https://read.qxmd.com/read/38057902/prenatal-diagnosis-of-mosaic-chromosomal-aneuploidy-and-uniparental-disomy-and-clinical-outcomes-evaluation-of-four-fetuses
#8
JOURNAL ARTICLE
Shengfang Qin, Xueyan Wang, Jin Wang, Na Xi, Mengjia Yan, Yuxia He, Mengling Ye, Zhuo Zhang, Yan Yin
BACKGROUND: Few co-occurrence cases of mosaic aneuploidy and uniparental disomy (UPD) chromosomes have been reported in prenatal periods. It is a big challenge for us to predict fetal clinical outcomes with these chromosome abnormalities because of their highly heterogeneous clinical manifestations and limited phenotype attainable by ultrasound. METHODS: Amniotic fluid samples were collected from four cases. Karyotype, chromosome microarray analysis, short tandem repeats, and whole exome sequencing were adopted to analyze fetal chromosomal aneuploidy, UPD, and gene variation...
December 6, 2023: Molecular Cytogenetics
https://read.qxmd.com/read/38031124/prenatal-identification-of-an-inverted-duplicated-13q-marker-chromosome-with-a-neocentromere
#9
JOURNAL ARTICLE
Liselot van der Laan, Daniel R Hoekman, Esther J Wortelboer, Marcel M A M Mannens, Angelique J A Kooper
In this case report, we describe a rare prenatal finding of a small marker chromosome. This marker chromosome corresponds to an inverted duplication of the 13q region 13q31.1q34 (or 13q31.1 → qter) with a neocentromere, detected during genetic analysis of a chorionic villus sample in a fetus with multiple congenital anomalies after a normal prenatal screening result by noninvasive prenatal testing.
November 30, 2023: Molecular Cytogenetics
https://read.qxmd.com/read/38031145/delineation-of-an-inverted-tandem-xq23-26-3-duplication-in-a-female-featuring-extremely-short-stature-and-mild-mental-deficiency
#10
JOURNAL ARTICLE
Shengfang Qin, Jiuzhi Zeng, Jin Wang, Mengling Ye, Qin Deng, Xueyan Wang, Zhuo Zhang, Dangying Yi, Yang Wu, Jesse Li-Ling
BACKGROUND: Partial duplications involving the long arm of the X chromosome are associated with mental retardation, short stature, microcephaly, and a wide range of physical findings. Female carriers usually have no clinical phenotype. Occasionally, they may also have heterogeneous features due to non-random inactivation of the X chromosome. METHODS: The peripheral blood sample was collected from the patient and subjected to a few genetic testing, including chromosomal karyotyping, Chromosomal microarray analysis (CMA), Optical genome mapping, short tandem repeat (STR) analysis for Determination of parental origin, and X chromosome inactivation (XCI) analysis...
November 29, 2023: Molecular Cytogenetics
https://read.qxmd.com/read/38012697/chromothripsis-in-lipoblastoma-second-reported-case-with-complex-plag1-rearrangement
#11
JOURNAL ARTICLE
Joel Lanceta, Joseph Tripodi, Lynne Karp, Meira Shaham, Nayyara Mahmood, Vesna Najfeld, Morris Edelman, Ninette Cohen
Lipoblastomas (LPBs) are rare benign neoplasms derived from embryonal adipose that occur predominantly in childhood. LPBs typically present with numeric or structural rearrangements of chromosome 8, the majority of which involve the pleomorphic adenoma gene 1 (PLAG1) proto-oncogene on chromosome 8q12. Here, we report on a LPB case on which showed evidence of chromothripsis. This is the second reported case of chromothripsis in LPB.
November 27, 2023: Molecular Cytogenetics
https://read.qxmd.com/read/37941034/cytogenomic-features-of-richter-transformation
#12
JOURNAL ARTICLE
Renata Woroniecka, Grzegorz Rymkiewicz, Zbigniew Bystydzienski, Barbara Pienkowska-Grela, Jolanta Rygier, Natalia Malawska, Katarzyna Wojtkowska, Nikolina Goral, Katarzyna Blachnio, Marcin Chmielewski, Magdalena Bartnik-Glaska, Beata Grygalewicz
BACKGROUND: Richter transformation (RT) is the development of aggressive lymphoma in patients with chronic lymphocytic leukemia (CLL) or small lymphocytic lymphoma (SLL). This rare disease is characterised by dismal prognosis. In recent years, there has been a deeper understanding of RT molecular pathogenesis, and disruptions of apoptosis (TP53) and proliferation (CDKN2A, MYC, NOTCH1) has been described as typical aberrations in RT. RESULTS: A single-institution cohort of 33 RT patients were investigated by karyotyping, fluorescence in situ hybridization and single nucleotide polymorphism/copy number (CN) arrays...
November 8, 2023: Molecular Cytogenetics
https://read.qxmd.com/read/37908008/prenatal-diagnosis-and-perinatal-outcomes-of-twin-pregnancies-disharmonious-for-one-fetus-with-nuchal-translucency-above-the-95th-percentile
#13
JOURNAL ARTICLE
You Wang, Hang Zhou, Fang Fu, Ken Cheng, Ruibin Huang, Ru Li, Dongzhi Li, Can Liao
OBJECTIVE: To assess prenatal diagnosis and pregnancy outcomes in twin pregnancies where one fetus has nuchal translucency (NT) above the 95th percentile. METHOD: In this retrospective analysis, 130 twin pregnancies (260 fetuses) in which one twin had an NT measurement above the 95th percentile while that of the other twin was normal were analyzed. Prenatal diagnostic results such as G bands, chromosomal microarray analysis, ultrasound findings, and pregnancy outcomes were reviewed...
November 1, 2023: Molecular Cytogenetics
https://read.qxmd.com/read/37898768/application-of-non-invasive-prenatal-testing-in-screening-chromosomal-aberrations-in-pregnancies-with-different-nuchal-translucency-cutoffs
#14
JOURNAL ARTICLE
Yong Xu, Siqi Hu, Liyuan Chen, Ying Hao, Hu Zhang, Zhiyong Xu, Weiqing Wu, Liyanyan Deng
OBJECTIVE: To investigate the efficiency of non-invasive prenatal testing (NIPT) in cases with different cutoffs of nuchal translucency (NT). METHODS: The study retrospectively analyses pregnancies with NT ≥ 2.5 mm who underwent NIPT. Results of NT, NIPT, chromosomal diagnostic and pregnancy outcomes were collected. RESULTS: Study group was composed of 1470 single pregnancies, including 864 with NT 2.5-2.9 mm, 350 with NT 3...
October 28, 2023: Molecular Cytogenetics
https://read.qxmd.com/read/37880750/cat-eye-syndrome-caused-by-22q11-1q11-21-duplication-case-report-in-a-chinese-family
#15
JOURNAL ARTICLE
Yanan Wang, Pai Zhang, Yuqiong Chai, Weiwei Zang
PURPOSE:  This paper presents a report on two uncommon instances of cat eye syndrome in a Chinese family. CASE PRESENTATION: The proband, a 23-year-old female, exhibited a diminutive cornea and complete blindness in her right eye, and the uncorrected distance visual acuity of her left eye was 0.7 LogMAR. Peripheral blood chromosome karyotyping reveal a karyotype of 47, XX, + mar. Subsequent analysis of chromosome copy number variation unveiled a 1...
October 25, 2023: Molecular Cytogenetics
https://read.qxmd.com/read/37858167/prenatal-diagnosis-of-down-syndrome-combined-with-transient-abnormal-myelopoiesis-in-foetuses-with-a-gata1-gene-variant-two-case-reports
#16
JOURNAL ARTICLE
Hui Tang, Jingjing Hu, Ling Liu, Lijuan Lv, Jian Lu, Jiexia Yang, Jiaqi Lu, Zhenhui Chen, Chaoxiang Yang, Dan Chen, Jintao Fu, Jing Wu
BACKGROUND: Down syndrome myeloid hyperplasia includes transient abnormal myelopoiesis (TAM) and the myeloid leukemia associated with Down syndrome (ML-DS). The mutation of GATA1 gene is essential in the development of Down syndrome combined with TAM or ML-DS. Some patients with TAM are asymptomatic and may also present with severe manifestations such as hepatosplenomegaly and hydrops. CASE PRESENTATION: We report two cases of prenatally diagnosed TAM. One case was a rare placental low percentage 21 trisomy mosiacism, resulting in the occurrence of a false negative NIPT...
October 19, 2023: Molecular Cytogenetics
https://read.qxmd.com/read/37775759/what-proportion-of-couples-with-a-history-of-recurrent-pregnancy-loss-and-with-a-balanced-rearrangement-in-one-parent-can-potentially-be-identified-through-cell-free-dna-genotyping
#17
JOURNAL ARTICLE
Laura J C M van Zutven, Jona Mijalkovic, Monique van Veghel-Plandsoen, Margaret Goense, Marike Polak, Maarten F C M Knapen, Sabina de Weerd, Marieke Joosten, Karin E M Diderich, Lies H Hoefsloot, Diane Van Opstal, Malgorzata I Srebniak
BACKGROUND: Balanced chromosome aberrations are reported in about 1:30 couples with recurrent pregnancy loss (RPL). Karyotyping of both parents is necessary to identify these aberrations. Genome-wide non-invasive prenatal testing (NIPT) in case of recurrent pregnancy loss could be a more efficient way to identify couples at increased risk for carrying a balanced chromosome rearrangement. The aim of this study was to evaluate whether the potential fetal imbalances caused by parental balanced aberrations detected in our center are large enough to be detectable by genome-wide non-invasive prenatal testing (NIPT)...
September 29, 2023: Molecular Cytogenetics
https://read.qxmd.com/read/37726793/application-of-non-invasive-prenatal-testing-to-91-280-spontaneous-pregnancies-and-3477-pregnancies-conceived-by-in-vitro-fertilization
#18
JOURNAL ARTICLE
Rong Wei, Jingran Li, Yuanyuan Xia, Chaohong Wang, Xinran Lu, Yuqin Fang, Jiansheng Zhu
BACKGROUND: Many clinical studies based on spontaneous pregnancies (SPs) have demonstrated the superiority of non-invasive prenatal testing (NIPT), and the question of whether this technology is suitable for offspring conceived by assisted reproductive technology has attracted attention. This study aimed to evaluate the application value of NIPT in screening for trisomy (T)21, T18, T13 and sex chromosome aneuploidy (SCA) in pregnant women who conceived by in vitro fertilization (IVF)...
September 19, 2023: Molecular Cytogenetics
https://read.qxmd.com/read/37716945/cytogenetic-profile-of-1791-adult-acute-myeloid-leukemia-in-india
#19
JOURNAL ARTICLE
Vivi M Srivastava, Sukesh Chandran Nair, Marimuthu Sappani, Marie-Therese Manipadam, Uday P Kulkarni, Anup J Devasia, N A Fouzia, Anu Korula, Kavitha M Lakshmi, Aby Abraham, Alok Srivastava
BACKGROUND: Cytogenetic analysis continues to have an important role in the management of acute myeloid leukemia (AML) because it is essential for prognostication. It is also necessary to diagnose specific categories of AML and to determine the most effective form of treatment. Reports from South Asia are few because the availability of cytogenetic services is relatively limited. METHODS: We performed a retrospective analysis of the cytogenetic findings in adults with AML seen consecutively in a single centre in India...
September 16, 2023: Molecular Cytogenetics
https://read.qxmd.com/read/37667392/molecular-and-cytogenetic-analysis-of-small-supernumerary-marker-chromosomes-in-prenatal-diagnosis
#20
JOURNAL ARTICLE
Yang Yang, Wang Hao
BACKGROUND: Small supernumerary marker chromosome (sSMC) is a structurally abnormal chromosome of unknown origin by conventional cytogenetics. The understanding of clinical significance of sSMC is still limited in prenatal diagnosis. The presence of sSMC poses a challenge for genetic counselling. METHODS: We obtained the clinical information of 25 cases with sSMC. The fetal samples were subjected to multiple molecular and cytogenetic approaches including karyotype analysis, chromosomal microarray analysis, bacterial artificial chromosomes-on-beads assay, and fluorescence in situ hybridization...
September 4, 2023: Molecular Cytogenetics
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