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Approximately 20 cases of genome-wide uniparental disomy or diploidy (GWUPD) as mosaicism have previously been reported. We present the case of an 11-year-old deaf girl with a paternal uniparental diploidy or isodisomy with a genome-wide loss of heterozygosity (LOH). The patient was originally tested for non-syndromic deafness, and the novel variant p.V234I in the ESRRB gene was found in a homozygous state. Our female proband is the seventh patient diagnosed with GWUPD at a later age and is probably the least affected of the seven, as she has not yet presented any malignancy. Most, if not all, reported patients with GWUPD whose clinical details have been published have developed malignancy, and some of those patient developed malignancy several times. Therefore, our patient has a high risk of malignancy and is carefully monitored by a specific outpatient pediatric oncology program. This observation seems to be novel and unique in a GWUPD patient. Our study is also unique as it not only provides very detailed documentation of the genomic situations of various tissues but also reports differences in the mosaic ratios between the blood and saliva, as well as a normal biparental allelic situation in the skin and biliary duct. Additionally, we were able to demonstrate that the mosaic ratio in the blood remained stable even after 3 years and has not changed over a longer period.

медицинская академия непрерывного профессионального образования МЗ РФ, г. Москва, РФ, 2 Национальный медицинский исследовательский центр детской гематологии, онкологии и иммунологии им. Димы Рогачева, г. Москва, РФ, 3 ГБУЗ «Инфекционная клиническая больница №2 Департамента здравоохранения города Москвы», РФ Представлены данные об этиологии, эпидемиологии, клиническом течении и последствиях бактериальных гнойных менингитов на современном этапе у детей в городе Москве. Представлен анализ динамики заболеваемости за последние 5 лет в зависимости от этиологии. В Москве в последние годы наблюдается смена сероваров менингококка с повышением W135, увеличение доли пневмококка и снижение доли гемофильной палочки типа b. Рассмотрены современные аспекты клиники, диагностики, терапии и профилактики менингитов у детей. Ключевые слова: дети, бактериальные гнойные менингиты, заболеваемость, тактика диагностики и лечения, Москва

OmniPlex assay significantly improved the QF-PCR methodology for rapid prenatal aneuploidy detection in the Czech population. Based on detected heterozygosity of markers used for QF-PCR in this population, OmniPlex is a robust assay for the detection of chromosomes 13, 18, 21, X and Y in a single reaction.

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