Distal Deletion of Chromosome 11q Encompassing Jacobsen Syndrome without Platelet Abnormality
نویسندگان
چکیده
منابع مشابه
Distal Deletion of Chromosome 11q Encompassing Jacobsen Syndrome without Platelet Abnormality
Terminal 11q deletion, known as Jacobsen syndrome (JBS), is a rare genetic disorder associated with numerous dysmorphic features. We studied two cases with multiple congenital anomalies that were cytogenetically detected with deletions on 11q encompassing JBS region: 46,XX,der(11) del(11)(q24). Array comparative genomic hybridization (aCGH) analysis confirmed partial deletion of 11.8-11.9 Mb at...
متن کاملJacobsen distal 11q deletion syndrome with a myelodysplastic change of hemopoietic cells.
We describe a male infant with unusual facial appearance, relative pancytopenia, bilateral simian creases, and an accessory nipple. Cytogenetic analysis showed deletion of the long arm of chromosome 11 [46,XY,del(11)(pter-->q23.2:)]. Bone-marrow study showed a myelodysplastic change of hemopoietic cells compatible with peripheral blood findings. Pachygyria of the temporal and frontal lobes was ...
متن کامل'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...
متن کاملDysmegakaryopoietic thrombocytopenia in patients with distal chromosome 11q deletion.
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...
متن کاملMost Jacobsen syndrome deletion breakpoints occur distal to FRA11B.
Recent studies have identified a (CCG)n repeat in the 5' untranslated region of the CBL2 protooncogene (11q23.3) and have demonstrated that expansion of this repeat causes expression of the folate-sensitive fragile site FRA11B. It has also been demonstrated that FRA11B is the site of breakage in some cases of Jacobsen syndrome (JS) involving terminal deletions of chromosome 11q. We report on 2 ...
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ژورنال
عنوان ژورنال: Clinical Medicine Insights: Pediatrics
سال: 2014
ISSN: 1179-5565,1179-5565
DOI: 10.4137/cmped.s18121