Should embryos with autosomal monosomy by preimplantation genetic testing for aneuploidy be transferred?: Implications for embryo selection from a systematic literature review of autosomal monosomy survivors
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DOI: 10.1002/pd.5185
Abstract: To review the literature for survival and phenotypes of liveborns with autosomal monosomy to inform decisions regarding transfer of in vitro fertilization‐derived embryos reported as monosomic on preimplantation genetic testing for aneuploidy (PGT‐A). read more here.
Keywords: genetic testing; monosomy; testing aneuploidy; preimplantation genetic ... See more keywords
Autoimmune Myelofibrosis in a 12 -years-old Male With Monosomy 7, Systemic Lupus Erythematous and Lupus Nephritis: A Case Report and Review of the Literature.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of pediatric hematology/oncology"
DOI: 10.1097/mph.0000000000002523
Abstract: Complete or partial loss of chromosome 7 is a common and well-known cytogenetic abnormality associated with preleukemic myelodysplasia and myeloid leukemia but not with autoimmune myelofibrosis. Detection of this molecular change represents poor prognosis. When… read more here.
Keywords: lupus erythematous; autoimmune myelofibrosis; systemic lupus; monosomy ... See more keywords
Gastrointestinal: Intestinal Behçet's disease—like ulcers associated with myelodysplastic syndrome with monosomy 7
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DOI: 10.1111/jgh.14441
Abstract: A 76-year-old man presented to our hospital because of bloody stool and general fatigue. Colonoscopy revealed multiple erosions and edematous thickening in the ileocecal valve. Moreover, it also revealed multiple punched-out and oval-shaped ulcers in… read more here.
Keywords: monosomy; intestinal beh; disease; beh disease ... See more keywords
Novel V1551L Mutation in SAMD9L Inhibits Cell Cycle Progression and Results in Pancytopenia That Progresses to MDS with Monosomy 7
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DOI: 10.1182/blood-2018-99-120250
Abstract: Germline SAMD9L mutation is a recently recognized cause of constitutional bone marrow failure with a unique propensity for clonal evolution to myelodysplastic syndrome (MDS) with monosomy 7. It is now known that a clinical syndrome… read more here.
Keywords: cell; monosomy; mutation; bone marrow ... See more keywords
Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22
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DOI: 10.1186/s13039-018-0375-3
Abstract: BackgroundRing chromosome instability may influence a patient’s phenotype and challenge its interpretation.ResultsHere, we report a 4-year-old girl with a compound phenotype. Cytogenetic analysis revealed her karyotype to be 46,XX,r(22). aCGH identified a 180 kb 22q13.32… read more here.
Keywords: phenotype; 22q13 q13; monosomy; deletion ... See more keywords
The Natural History of Metabolic Comorbidities in Turner Syndrome from Childhood to Early Adulthood: Comparison between 45,X Monosomy and Other Karyotypes
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DOI: 10.3389/fendo.2018.00027
Abstract: Objective Patients with Turner syndrome (TS) are at increased risk for metabolic disorders. We aimed to delineate the occurrence and evolution of metabolic comorbidities in TS patients and to determine whether these differ in 45,X… read more here.
Keywords: metabolic comorbidities; monosomy; early adulthood; monosomy karyotypes ... See more keywords