The detection of a familial translocation, t(10;18)(p12;q22), has made possible the observation in type and countertype of two related persons with opposite chromosomal imbalance: trisomy 18q22----18qter with monosomy 10p12----10pter in one of the two and monosomy 18q22----10pter in the other. In each case the abnormalities attributable to monosomy overrule those attributable to monosomy overrule those attributable to the associated trisomy.
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Oncogene
March 2025
Department of Molecular and Clinical Cancer Medicine, Institute of Systems, Molecular and Integrative Biology, University of Liverpool, Liverpool, UK.
Monoallelic deletion of the short arm of chromosome 17 (del17p) is a recurrent abnormality in cancers with poor outcomes. Best studied in relation to haematological malignancies, associated functional outcomes are attributed mainly to loss and/or dysfunction of TP53, which is located at 17p13.1, but the wider impact of deletion of other genes located on 17p is poorly understood.
View Article and Find Full Text PDFHum Genomics
September 2024
Pediatric Department, College of Medicine, Princess Nourah Bint Abdulrahman University, Riyadh, Saudi Arabia.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
September 2024
Center of Prenatal Diagnosis, Maternal and Child Health Care Hospital of Longhua District, Shenzhen, Guangdong 518109, China.
Objective: To explore the genetic basis for a child with developmental delay and intellectual deficit (DD/ID).
Methods: A child who was admitted to the Maternal and Child Health Care Hospital of Longhua District of Shenzhen City on June 3, 2023 due to DD/ID, craniofacial malformations, and recurrent infections of upper respiratory tract was selected as the study subject. G-banded chromosomal karyotyping was carried out for the child and her parents.
Genome Biol
April 2024
Department of Clinical Biochemistry and Pharmacology, Ben-Gurion University of the Negev, 84105, Beer Sheva, Israel.
Background: Aneuploidy, an abnormal number of chromosomes within a cell, is a hallmark of cancer. Patterns of aneuploidy differ across cancers, yet are similar in cancers affecting closely related tissues. The selection pressures underlying aneuploidy patterns are not fully understood, hindering our understanding of cancer development and progression.
View Article and Find Full Text PDFMol Biol Rep
February 2024
Department of Medical Genetics, Haseki Education and Research Hospital, Health Sciences University, Istanbul, Turkey.
The 9p deletion syndrome, which was defined in a detailed way in the previous studies, was characterized by various clinical features such as psychomotor retardation, dysmorphic features and genital anomalies. In contrast to 9p deletion syndrome, 20p duplication was rarely reported in the literature with only a few case reports. Regarding the combination of 9p deletion syndrome and 20p duplication, we found that it was reported in only four patients.
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