Browsing by Subject "Chromosome deletion"

Now showing 1 - 3 of 3
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    A familial SAMD9 variant present in pediatric myelodysplastic syndrome
    (Cold Spring Harbor Laboratory, 2023-05-09) Rahim, Mahvish Q.; Rahrig, April; Overholt, Kathleen; Conboy, Erin; Czader, Magdalena; Saraf, Amanda June; Pediatrics, School of Medicine
    Myelodysplastic syndrome (MDS) is a rare pediatric diagnosis characterized by ineffective hematopoiesis with potential to evolve into acute myelogenous leukemia (AML). In this report, we describe a unique case of a 17-yr-old female with an aggressive course of MDS with excess blasts who was found to have monosomy 7 and a SAMD9 germline variant, which has not previously been associated with a MDS phenotype. This case of MDS was extremely rapidly progressing, showing resistance to chemotherapy and stem cell transplant, unfortunately resulting in patient death. It is imperative to further investigate this rare variant to aid in the future care of patients with this variant.
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    Parental origin of chromosome 15 deletion in Prader-Willi syndrome
    (Elsevier, 1983-06-04) Butler, Merlin G.; Palmer, Catherine G.; Medical and Molecular Genetics, School of Medicine
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    Phelan-McDermid syndrome: a classification system after 30 years of experience
    (BMC, 2022-01-29) Phelan, Katy; Boccuto, Luigi; Powell, Craig M.; Boeckers, Tobias M.; van Ravenswaaij‑Arts, Conny; Rogers, R. Curtis; Sala, Carlo; Verpelli, Chiara; Thurm, Audrey; Bennett, William E., Jr.; Winrow, Christopher J.; Garrison, Sheldon R.; Toro, Roberto; Bourgeron, Thomas; Pediatrics, School of Medicine
    Phelan-McDermid syndrome (PMS) was initially called the 22q13 deletion syndrome based on its etiology as a deletion of the distal long arm of chromosome 22. These included terminal and interstitial deletions, as well as other structural rearrangements. Later, pathogenetic variants and deletions of the SHANK3 gene were found to result in a phenotype consistent with PMS. The association between SHANK3 and PMS led investigators to consider disruption/deletion of SHANK3 to be a prerequisite for diagnosing PMS. This narrow definition of PMS based on the involvement of SHANK3 has the adverse effect of causing patients with interstitial deletions of chromosome 22 to "lose" their diagnosis. It also results in underreporting of individuals with interstitial deletions of 22q13 that preserve SHANK3. To reduce the confusion for families, clinicians, researchers, and pharma, a simple classification for PMS has been devised. PMS and will be further classified as PMS-SHANK3 related or PMS-SHANK3 unrelated. PMS can still be used as a general term, but this classification system is inclusive. It allows researchers, regulatory agencies, and other stakeholders to define SHANK3 alterations or interstitial deletions not affecting the SHANK3 coding region.