Objective: To detect and analyze a supernumerary derivative chromosome 15 with combined cytogenetic and molecular techniques, and to discuss the correlation between genomic copy number variations (CNVs) and clinical phenotypes.
Methods: G-banded chromosome analysis and multiplex ligation-dependent probe amplification (MLPA) were carried out. The whole genome of the patient was also analyzed with array-comparative genome hybridization(array-CGH).
Results: G-banding analysis indicated that the patient has a karyotype of 47, XY, + mar, with the supernumerary chromsome derived from 15q11-13 region spanning 9.8 Mb from locus 20477397 to 30298155.
Conclusion: CNVs of 15q11-13 are associated with mental retardation, language development delay and autistic disorder. Conventional cytogenetic analysis with array-CGH may provide a platform for accurate detection of chromosomal aberrations, which can faciliate the study of genome rearrangement underlying various diseases.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2012.01.019 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Prevalence of Dental Anomalies in Pediatric Patients at King Saud University Dental Hospital, Riyadh, Saudi Arabia-A Radiographic Analysis.
Children (Basel)
December 2024
Department of Preventive Dental Sciences, College of Dentistry, Princess Nourah bint Abdulrahman University, P.O. Box 84428, Riyadh 11671, Saudi Arabia.
Objectives: To record the prevalence of dental anomalies in children visiting King Saud Dental Hospital, Riyadh, Saudi Arabia.
Materials And Methods: This cross-sectional study involved radiographic examination of children aged 6 to 14 years who visited King Saud Dental Hospital, Riyadh, Saudi Arabia, in the past five years. Four dental interns were trained in three consecutive sessions by a pediatric dentist and evaluated the orthopantomograms of the children.
Persistent Müllerian Duct Syndrome with Supernumerary Testicles Due to a Novel Homozygous Variant in the Gene and Literature Review.
Diagnostics (Basel)
November 2024
Endocrinology Department, Elias Emergency University Hospital, 011461 Bucharest, Romania.
: Persistent Müllerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) caused by mutations in the genes coding anti-Müllerian hormone (AMH) or the AMH receptor, characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys. Testicular regression syndrome is common in PMDS, yet the association with supernumerary testis has been reported in only two patients where genetic testing was not performed. : Thus, we report an individual with this particular association caused by a previously unreported homozygous variant in the gene to enable future genotype-phenotype correlations in this rare disorder.
View Article and Find Full Text PDFA national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities.
Genome Res
November 2024
Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 171 77 Stockholm, Sweden;
Clinical genetic laboratories often require a comprehensive analysis of chromosomal rearrangements/structural variants (SVs), from large events like translocations and inversions to supernumerary ring/marker chromosomes and small deletions or duplications. Understanding the complexity of these events and their clinical consequences requires pinpointing breakpoint junctions and resolving the derivative chromosome structure. This task often surpasses the capabilities of short-read sequencing technologies.
View Article and Find Full Text PDFA RhoGAP controls apical actin polymerization by inhibiting formin in Arabidopsis pollen tubes.
Curr Biol
November 2024
Center for Plant Biology, School of Life Sciences, Tsinghua University, Beijing 100084, China. Electronic address:
Formin is an important player in promoting apical actin polymerization in pollen tubes, but the mechanism regulating its activity remains unknown. We here identify REN1, a Rho GTPase-activating protein, as a negative regulator of formins in Arabidopsis pollen tubes. Specifically, we found that depletion of REN1 promotes apical actin polymerization and increases the amount of filamentous actin in pollen tubes.
View Article and Find Full Text PDF[Prenatal diagnosis of a fetus with 15q11q13 complex duplication syndrome and a literature review].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
October 2024
Laboratory for Comprehensive Prevention and Treatment of Birth Defects, Ningbo Women & Children's Hospital, Ningbo, Zhejiang 315012, China.
Article Synopsis
- The study aims to investigate a fetus diagnosed with 15q11q13 complex duplication syndrome, focusing on its clinical features and genetic causes.
- Clinical data was collected and advanced genetic tests were performed, including karyotyping and exome sequencing, revealing significant chromosomal duplications originating from the mother.
- Literature review identified 11 similar cases of hexasomy associated with intellectual and developmental challenges, suggesting a pattern of mental retardation and other developmental delays linked to this syndrome.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!