A complex murine chromosomal rearrangement, T(In1;5)44H, was recovered after 5 Gy + 5 Gy (given 24 h apart) spermatogonial X-irradiation. T44H is a paracentric inversion of most of Chromosome (Chr) 1 (1A1-1H6), followed by splitting of the inverted segment through a reciprocal translocation with Chr 5, the latter breakpoints being in 1C2 and 5F. Linkage tests have shown that the probable order on Chr 1 is fz-ln-T44H with 2.4 +/- 2.4 crossover units between ln and T44H. On Chr 5 the probable order is W-T44H-go-bf with 7.1 +/- 4.9 crossover units between T44H and go. All heterozygotes show a marked dilution of coat colour. Heterozygotes of both sexes are fertile, producing small litters with a marked shortage of T44H carriers. The number of live embryos produced from female carriers is significantly lower than from males. Despite the complex nature of the rearrangement, complete chromosome pairing and chiasma formation occur regularly at meiosis. Depending on the strands involved, this leads to the production of either one or two dicentric chromatids per spermatocyte, and their disjunctional fate can be followed into metaphase II. Analysis of chromatid classes at this stage suggests reasons for both the high embryonic mortality and the shortage of liveborn T44H carriers.
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http://dx.doi.org/10.1159/000133506 | DOI Listing |
Intrachromosomal amplification of chromosome 21 (iAMP21) B-cell precursor acute lymphoblastic leukemia (BCP-ALL) in children is a high-risk subtype for which targeted drugs are lacking. In this study, we determined the frequency of secondary lesions in 28 iAMP21 BCP-ALL patient samples and investigated cellular sensitivity for candidate-targeted drugs. iAMP21 was enriched in aberrations (10.
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January 2025
Department of Clinical Pathology, Pamela Youde Nethersole Eastern Hospital, Hong Kong, Hong Kong SAR, China.
NUT carcinoma (NC) is an extremely rare, aggressive malignancy characterized by chromosomal rearrangements in the (nuclear protein in testis) gene. It usually affects younger patients with a median age of diagnosis at 23 years old. The mainstay of treatment consists of combination chemotherapy, surgical resection, and high dose radiation.
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Reproductive Medicine Center, Jiangxi Maternal and Child Health Hospital, 318 Bayi Avenue, Nanchang, 330006, China.
To explore the genetic cause of a four-generation severe intellectual disability in a Chinese family using nanopore sequencing and to provide genetic counseling and reproductive guidance for family members. Multiple genetic analyses of the proband and family members were performed, including chromosome karyotype analysis, whole exome sequencing, nanopore sequencing, PCR amplification, and Sanger sequencing. The results of G-binding karyotyping, CGG repeats for FMR1, GGC repeats for NOTCH2NCL, and trio-whole-exome sequencing were negative for the proband and his parents.
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January 2025
National Clinical Research Center for Obstetric & Gynecologic Diseases, Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
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