Genes, Vol. 14, Pages 2194: A Rare Case of Concurrent 2q34q36 Duplication and 2q37 Deletion in a Neonate with Syndromic Features
In this report, we provide an extensive molecular analysis of a 15-day-old newborn referred for syndromic features. Our analysis reveals an 8.5 Mb microdeletion at 2q37.1, which extends to the telomere, in conjunction with an 8.6 Mb interstitial microduplication at 2q34q36.1. Our findings underscore the prominence of 2q37 terminal deletions as commonly reported genomic anomalies. We compare our patient’s phenotype with previously reported cases in the literature to contribute to a more refined classification of 2q37 microdeletion syndrome and assess the potential impact of 2q34q36.1 microduplication. We also ...
Source: Genes - December 10, 2023 Category: Genetics & Stem Cells Authors: Francesco Nicola Riviello Alessia Daponte Emanuela Ponzi Romina Ficarella Paola Orsini Roberta Bucci Mario Ventura Francesca Antonacci Claudia Rita Catacchio Mattia Gentile Tags: Case Report Source Type: research
Effect of maternal age on foetal chromosomal defects: an investigation based on non-invasive prenatal testing
CONCLUSION: Overall, NIPT detection in elderly pregnant women has excellent clinical application value in reducing the incidence of either birth defects or abortion caused by invasive chromosome examination.PMID:38069630 | DOI:10.1080/01443615.2023.2287125 (Source: Journal of Obstetrics and Gynaecology)
Source: Journal of Obstetrics and Gynaecology - December 9, 2023 Category: OBGYN Authors: Zhi-Qiang Li Wei-Ling Kang Si-Jie Tang Yuan Mao Ting Fang Jia-Jia Jiang Xiao-Hua Li Source Type: research
Episodic ataxia in child with 16p11.2 deletion including PRRT2
Pathogenic variants in the Proline-rich transmembrane protein 2 (PRRT2) gene are associated with paroxysmal kinesigenic dyskinesia (PKD), benign familial infantile epilepsy (BFIE) and PKD with infantile convulsions (PKD/IC) syndrome. Heterozygous mutations in PRRT2 are associated with hemiplegic migraine and episodic ataxia (EA). EA due to PRRT2 gene mutation is rare [1]. Chromosome 16p11.2 deletions including PRRT2 are associated with the 16p11.2 microdeletion syndrome. They are associated with seizures, dystonia and paroxysmal dyskinesia [2]. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - December 9, 2023 Category: Neurology Authors: Hansashree Padmanabha, K. Raghavendra, Gautham Arunachal, A.R. Nagaraj, R.S. Harishma, Saraswati Nashi, M. Pooja, P.S. Mathuranath, Rohan Mahale Tags: Correspondence Source Type: research
Y chromosome microdeletions in Chinese men with infertility: prevalence, phenotypes, and intracytoplasmic sperm injection outcomes
CONCLUSIONS: This is the largest epidemiological study on Y chromosome microdeletions in Chinese men with infertility. The study results underline the necessity for detecting Y chromosome microdeletion in men with infertility and severe sperm count abnormalities, especially those with cryptozoospermia. The combined deletion of sY254 and sY255 in the AZFc region and sY152 in the AZFd region was the most prevalent Y chromosome microdeletion pattern. Among patients with AZFcd deletion and ejaculated sperm, ICSI treatment can result in pregnancy outcomes, similar to those without AZFcd deletion.PMID:38053137 | DOI:10.1186/s129...
Source: Reproductive Biology - December 5, 2023 Category: Reproduction Medicine Authors: Dongjia Chen Guoqing Fan Xianqing Zhu Qinyun Chen Xuren Chen Feng Gao Zexin Guo Peng Luo Yong Gao Source Type: research
Y chromosome microdeletions in Chinese men with infertility: prevalence, phenotypes, and intracytoplasmic sperm injection outcomes
CONCLUSIONS: This is the largest epidemiological study on Y chromosome microdeletions in Chinese men with infertility. The study results underline the necessity for detecting Y chromosome microdeletion in men with infertility and severe sperm count abnormalities, especially those with cryptozoospermia. The combined deletion of sY254 and sY255 in the AZFc region and sY152 in the AZFd region was the most prevalent Y chromosome microdeletion pattern. Among patients with AZFcd deletion and ejaculated sperm, ICSI treatment can result in pregnancy outcomes, similar to those without AZFcd deletion.PMID:38053137 | PMC:PMC10696855 ...
Source: Reproductive Biology - December 5, 2023 Category: Reproduction Medicine Authors: Dongjia Chen Guoqing Fan Xianqing Zhu Qinyun Chen Xuren Chen Feng Gao Zexin Guo Peng Luo Yong Gao Source Type: research
Parental experiences and needs of caring for a child with 22q11.2 deletion syndrome
For a variety of reasons, raising a child with 22q11.2DS has significant psychosocial and financial repercussions for the family caregivers. Our aim was to identify and explain the expectations and concerns of... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - December 4, 2023 Category: Internal Medicine Authors: Dariusz Walkowiak and Jan Domaradzki Tags: Research Source Type: research
GSE193877 Pathogenic variants in PRDM16 impair cardiomyocytes maturation and cause cardiomyopathy phenotypes in humans
CONCLUSIONS: PRDM16 is a novel regulator of cardiac maturation acting upstream of ERRs and their regulators, and a suppressor of fibrotic signaling including TGFB. (Source: GEO: Gene Expression Omnibus)
Source: GEO: Gene Expression Omnibus - December 1, 2023 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research
GSE193873 Pathogenic variants in PRDM16 impair cardiomyocytes maturation and cause cardiomyopathy phenotypes in mice
CONCLUSIONS: PRDM16 is a novel regulator of cardiac maturation acting upstream of ERRs and their regulators, and a suppressor of fibrotic signaling including TGFB. (Source: GEO: Gene Expression Omnibus)
Source: GEO: Gene Expression Omnibus - December 1, 2023 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research
Prenatal genetic diagnosis associated with fetal ventricular septal defect: an assessment based on chromosomal microarray analysis and exome sequencing
Conclusion: In this study, CNVs and sequence variants were found in 13.03% and 13.7% of cases, respectively. ES can be recommended for fetuses with VSD without chromosome abnormalities and pathogenic CNVs, especially those that are combined with other ultrasound abnormalities. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - November 24, 2023 Category: Genetics & Stem Cells Source Type: research
Polymorphisms and expression levels of TNP2, SYCP3, and AZFa genes in patients with azoospermia
CONCLUSION: These results suggest that reduced SYCP3 and DDX3Y mRNA expression profiles in testicular tissue are associated with a higher likelihood of retrieving spermatozoa in individuals with azoospermia. The homozygous genotype TT of the SYCP3 polymorphism was significantly associated with azoospermia.PMID:37995753 | DOI:10.5653/cerm.2023.06219 (Source: Clinical and Experimental Reproductive Medicine)
Source: Clinical and Experimental Reproductive Medicine - November 23, 2023 Category: Reproduction Medicine Authors: Mohammad Ismael Ibrahim Jebur Narges Dastmalchi Parisa Banamolaei Reza Safaralizadeh Source Type: research
