P139 Partial trisomy 3p – a case report
Sign Up to like & getrecommendations! Published in 2019 at "Archives of Disease in Childhood"
DOI: 10.1136/archdischild-2019-epa.494
Abstract: Introduction Partial trisomy 3p results from an unbalanced translocation or de novo duplication. Clinical features include of structural brain abnormalities, dysmorphic facies, congenital heart defects, learning disability and hypoplastic genitalia. We report the clinical manifestations… read more here.
Keywords: partial trisomy; trisomy case; trisomy; case report ... See more keywords
Partial Trisomy of Chromosome 13 with a Novel Translocation (8 ; 13) and Unique Clinical Presentation in a Palestinian Infant
Sign Up to like & getrecommendations! Published in 2019 at "Case Reports in Medicine"
DOI: 10.1155/2019/4561761
Abstract: Partial trisomy 13 is a rare syndrome that usually culminates in death within the first six months of the infant's life. We present a rare case of partial trisomy 13q with exclusive clinical manifestations. The… read more here.
Keywords: trisomy; partial trisomy; unique clinical; trisomy 13q ... See more keywords
Partial trisomy 21 contributes to T-cell malignancies induced by JAK3-activating mutations in murine models.
Sign Up to like & getrecommendations! Published in 2018 at "Blood advances"
DOI: 10.1182/bloodadvances.2018016089
Abstract: JAK3-activating mutations are commonly seen in chronic or acute hematologic malignancies affecting the myeloid, megakaryocytic, lymphoid, and natural killer (NK) cell compartment. Overexpression models of mutant JAK3 or pharmacologic inhibition of its kinase activity have… read more here.
Keywords: jak3; jak3 activating; partial trisomy; activating mutations ... See more keywords
A child with multiple congenital anomalies due to partial trisomy 7q22.1 → qter resulting from a maternally inherited balanced translocation: a case report and review of literature
Sign Up to like & getrecommendations! Published in 2018 at "BMC Medical Genomics"
DOI: 10.1186/s12920-018-0366-6
Abstract: BackgroundParental balanced reciprocal translocations can result in partial aneuploidies in the offspring due to unbalanced meiotic segregation during gametogenesis. Herein, we report the phenotypic and molecular cytogenetic characterization of a 2 years and 4 months old female… read more here.
Keywords: balanced translocation; qter; partial trisomy; trisomy 7q22 ... See more keywords
Molecular cytogenetic characterization of partial trisomy of the long arm of chromosome 11 in a patient with multiple congenital anomalies
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Cytogenetics"
DOI: 10.1186/s13039-022-00595-0
Abstract: Background Partial trisomy of the long arm of chromosome 11 is a rare cytogenetic abnormality. It has been characterized by variable sized duplications that lead to a range of phenotypes including growth retardation, developmental delay/intellectual… read more here.
Keywords: chromosome; trisomy long; arm chromosome; trisomy ... See more keywords
Biclonal Diffuse Large B-cell Lymphoma Commonly Characterized by Partial Trisomy 18q Involving MALT1 and BCL2
Sign Up to like & getrecommendations! Published in 2022 at "Internal Medicine"
DOI: 10.2169/internalmedicine.9711-22
Abstract: A 68-year-old man was admitted because of a left shoulder mass and swollen right testis. Pathological examinations indicated a diagnosis of diffuse large B-cell lymphoma (DLBCL) with the CD20+BCL6+MUM1+BCL2+CD10-MYC- phenotype in both lesions. G-banding of… read more here.
Keywords: cell lymphoma; trisomy 18q; partial trisomy; large cell ... See more keywords