Burkitt‐like lymphoma with 11q aberration

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The 11q-Gain/Loss Aberration Occurs Recurrently in MYC-Negative Burkitt-like Lymphoma With 11q Aberration, as Well as MYC-Positive Burkitt Lymphoma and MYC-Positive High-Grade B-Cell Lymphoma, NOS

Objectives The latest revision of lymphoma's World Health Organization classification describes the new provisional entity "Burkitt-like lymphoma with 11q aberration" (BLL, 11q) as lacking MYC rearrangement, but harboring the specific11q-gain/loss aberration. We report genetic characteristics of 11 lymphoma cases with this aberration. Methods Classical cytogenetics, fluorescence in situ hybri...

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'Deletion rescue' by mitotic 11q uniparental disomy in a family with recurrence of 11q deletion Jacobsen syndrome.

We describe a family with recurrent 11q23-qter deletion Jacobsen syndrome in two affected brothers, with unique mosaic deletion 'rescue' through development of uniparental disomy (UPD) in the mother and one of the brothers. Inheritance studies show that the deleted chromosome is of maternal origin in both boys, and microarray shows a break near the ASAM gene. Parental lymphocyte chromosomes wer...

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Endocrine abnormalities in patients with Jacobsen (11q-) syndrome.

Jacobsen syndrome (JS), a rare disorder with multiple dysmorphic features, is caused by the terminal deletion of chromosome 11q. Short stature has been reported in this syndrome, however very few of these patients have undergone endocrine evaluation. Serum insulin-like growth factor-1 (IGF-1) levels are an indirect indicator of growth hormone activity and are a useful initial screening tool in ...

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A 3-year-old boy was admitted to our division because of chronic thrombocytopenic purpura (platelet count 65,000 to 85,000/pL). Clinical, hematologic, cytogenetic, and molecular evaluation showed the typical Jacobsen syndrome phenotype with deletion at 1 lq24.2qter. This case was included in a collaborative study on distal 1 lq deletion? The patient presented normal platelet morphology and dysm...

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ژورنال

عنوان ژورنال: Clinical Case Reports

سال: 2019

ISSN: 2050-0904,2050-0904

DOI: 10.1002/ccr3.2361