We examined the peripheral blood chromosomes of eight patients with retinoblastoma. In two of them an interstitial deletion of 13q was found. The breakpoints were determined as follows: case 1, 13q12 leads to 21; case 2 13q12 leads to 31. In both cases, band 13q14 was deleted. In case 2 the lymphocytes of the mother showed the identical interstitial 13q deletion in 3 of 100 mitoses, thus raising the possibility of maternal origin of the 13q deletion in a child. In one patient, retinoblastoma was unilateral; in the other, bilateral. Both patients were mentally retarded.
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http://dx.doi.org/10.1007/BF00296457 | DOI Listing |
Taiwan J Obstet Gynecol
January 2025
Department of Obstetrics and Gynecology, Changhua Christan Hospital, Changhua, Taiwan. Electronic address:
Objective: Prenatal diagnosis of fetal 13q34 microdeletion is a rare condition, which may present with abnormal fetal development, including facial dysmorphism, mental retardation, and developmental delay. We present a pregnant woman in whom the fetus presented with a 0.24-cm ventricular septal defect at 20 weeks of gestation, with fetal 13q34 (113610612-115092648) deletion.
View Article and Find Full Text PDFBlood
December 2024
Division of Hematology, Mayo Clinic Rochester, Rochester, MN.
Br J Cancer
July 2024
Department of Pathology, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL, 35294, USA.
Background: Obesity is an established modifiable risk factor for multiple myeloma (MM). However, associations of obesity and MM risk in Black populations, for whom obesity and MM are more common, is less clear.
Methods: Using participants enrolled in the Integrative Molecular And Genetic Epidemiology study, we evaluated the association of anthropometric traits with MM risk overall, stratified by race and sex.
Mol Genet Genomic Med
March 2024
Department of Ophthalmology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Background: Retinoblastoma (Rb) is the most common intraocular malignancy in childhood, originating from primitive retinal stem cells or cone precursor cells. It can be triggered by mutations of the RB1 gene or amplification of the MYCN gene. Rb may rarely present with polydactyly.
View Article and Find Full Text PDFIndian J Pathol Microbiol
April 2024
Department of Pathology and Laboratory Medicine, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India.
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