منابع مشابه
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.
Periventricular nodular heterotopia is caused by defective neuronal migration that results in heterotopic neuronal nodules lining the lateral ventricles. Mutations in filamin A (FLNA) or ADP-ribosylation factor guanine nucleotide-exchange factor 2 (ARFGEF2) cause periventricular nodular heterotopia, but most patients with this malformation do not have a known aetiology. Using comparative genomi...
متن کاملBone marrow hypoplasia, isochromosome 8q and deletion of chromosome 6q preceding B-cell lymphoma
sis of the CSF showed neoplastic cells with a frequency of 92.0% (Fig. 2C) and positivity for both CD56 and CD123 on immunocytochemical staining (Fig. 2D). He was diagnosed with leptomeningeal involvement of BPDCN. He was treated with intrathecal injections of high-dose cytarabine (40 mg) and methotrexate (15 mg) for 3 months, and he has been in complete remission for 4 months without evidence ...
متن کاملTerminal deletion of the long arm of chromosome 10.
The case of two female patients with de novo terminal deletion of the long arm of chromosome 10, one with del(10)(q26.2) and the other with del(10)(q26.3), is reported. Both presented with megabladder associated with urinary tract abnormalities. The case of four similar patients has been previously reported with bladder dilatation secondary to urinary obstruction. These new cases highlight the ...
متن کاملSuggestive linkage to chromosome 6q in families with bilateral vestibulopathy.
BACKGROUND Of the more than 40 genetically defined dominantly inherited hearing loss syndromes, only a few are associated with bilateral vestibulopathy. No genetic mutations have been identified in families with bilateral vestibulopathy and normal hearing. OBJECTIVE To perform a genome-wide scan for linkage in four families with dominantly inherited bilateral vestibulopathy. METHODS Patient...
متن کاملIntravascular large B-cell lymphoma manifesting as cholecystitis: report of an Asian variant showing gain of chromosome 18 with concurrent deletion of chromosome 6q.
Intravascular large B-cell lymphoma (IVLBCL), which involves the lumen of small vessels, is a rare variant of extranodal diffuse large B-cell lymphomas. Herein, we present a case of IVLBCL manifesting as cholecystitis in a 77-year-old Japanese man. He presented with fever, fatigue, and weight loss. Physical examination revealed tenderness of the right upper quadrant. The white blood cell count ...
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ژورنال
عنوان ژورنال: Pediatrics & Neonatology
سال: 2008
ISSN: 1875-9572
DOI: 10.1016/s1875-9572(08)60019-4