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Outcomes of two different unbalanced segregations from a maternal t(4;10)(q33;p15.1) translocation.
BMC Med Genomics
March 2023
Department of Medicine, University of California, 10833 Le Conte Avenue, Los Angeles, CA, 90095, USA.
Background: Unbalanced translocations can cause developmental delay (DD), intellectual disability (ID), growth problems, dysmorphic features, and congenital anomalies. They may arise de novo or may be inherited from a parent carrying a balanced rearrangement. It is estimated that 1/500 people is a balanced translocation carrier.
View Article and Find Full Text PDFMolecular landscapes of longitudinal NF2/22q and non-NF2/22q meningiomas show different life histories.
Brain Pathol
May 2023
Hong Kong and Shanghai Brain Consortium (HSBC), Hong Kong, China.
Recurrence is a major complication of some meningiomas. Although there were many studies on biomarkers associated with higher grades or increased aggressiveness, few studies specifically examined longitudinal samples of primary meningiomas and recurrences from the same patients for molecular life history. We studied 99 primary and recurrent meningiomas from 42 patients by FISH for 22q, 1q, 1p, 3p, 5q, 6q, 10p, 10q, 14q, 18q, CDKN2A/B homozygous deletion, ALT (Alternative Lengthening of Telomere), TERT re-arrangement, targeted sequencing and TERTp sequencing.
View Article and Find Full Text PDFEarly pediatric palliative care involvement in a child with a large deletion of the short arm (p) of chromosome 10: a case report.
Ann Palliat Med
January 2023
Pediatric Pain and Palliative Care Service, Department of Women's and Children's Health, University Hospital of Padova, Padova, Italy.
Background: We present a case of a Chinese child with one of the largest terminal deletions (21 Mb) of the short arm of chromosome 10 (10p) reported to date. Distal monosomy 10p is a rare chromosomal disorder characterized by intellectual disability, postnatal growth retardation, structural birth defects and dysmorphisms. Mutations in certain 10p regions have been associated with distinct clinical features, but the real weight of each component cannot be estimated in a large deletion like that of our child; therefore, long-term prognosis is difficult to predict precisely, although it certainly foresees a severe impact on the psychomotor development of the child.
View Article and Find Full Text PDFPhenotypic and Brain Imaging Findings Associated With a 10p Proximal Deletion Including the WAC Gene: Case Report and Literature Review.
Cogn Behav Neurol
September 2022
Child and Adolescent Psychiatry, Balikesir University Faculty of Medicine, Balikesir, Turkey.
Microarray-based techniques are an important testing method in etiological studies of intellectual disability and autism spectrum disorder. Interstitial deletion in the p11-p12 region of chromosome 10 is rare, having been reported in just 12 cases to date. Intellectual disability associated with the WAC gene in this region is referred to as DeSanto-Shinawi syndrome .
View Article and Find Full Text PDFMolecular cytogenetic analysis of partial monosomy 10p and trisomy 10q resulting from familial pericentric inversion (10): a first case report in Chinese population.
Mol Cytogenet
June 2022
Department of Obstetrics and Gynecology, Guangdong Provincial Key Laboratory of Major Obstetric Diseases, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, 510150, People's Republic of China.
Background: Chromosome aberrations of 10p monosomy and 10q trisomy resulting from parental pericentric inversion 10 are extremely rare, and to date, very few reports have been published on the matter.
Case Presentation: A 30-year-old pregnant woman with recurrent pregnancy loss is enrolled in this research. In this pregnancy, spontaneous abortion occurred in the first trimester of her pregnancy.
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