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A total of 150 infertile couples underwent chromosome analysis and genetic counselling before intracytoplasmic sperm injection (ICSI). Chromosomal abnormalities, including low-level sex chromosome mosaicism, were detected in 12% of the men and an unexpectedly high 6% of the women. Chromosomal abnormalities included gonosomal mosaicism in 13 cases,(More)
A review is given of the incidence, cytogenetics, and biologic relevance of pericentric inversions (pii). In 251 cases in the literature and our patients, 96 different inversion forms with different breakpoints are found. Eighteen of these cases have been observed several times in unrelated families; they are classified as types. The problem of pii in the(More)
Maternal uniparental disomy for the entire chromosome 7 (matUPD7) has been reported several times in Silver-Russell syndrome (SRS) and growth-restricted patients. Here we present our results from the analysis of an abortion with confined placental mosaicism (CPM) for trisomy 7 which showed a maternal meiotic origin of the trisomy in the placenta and rescue(More)
UNLABELLED Acute gastroenteritis (AGE) caused by rotavirus (RV) is a common disease among infants and toddlers, often leading to hospitalization and, in resource-poor countries, to death. However, little is known on specific complications of severe RV-positive (RV+) AGE and on the clinical course in chronically ill children. This was a retrospective(More)
Stromal interaction molecule 1 (STIM1) deficiency is a rare genetic disorder of store-operated calcium entry, associated with a complex syndrome including immunodeficiency and immune dysregulation. The link from the molecular defect to these clinical manifestations is incompletely understood. We report two patients with a homozygous R429C point mutation in(More)
BACKGROUND We determined antibodies to the pandemic influenza A (H1N1) 2009 virus in children to assess: the incidence of (H1N1) 2009 infections in the 2009/2010 season in Germany, the proportion of subclinical infections and to compare titers in vaccinated and infected children. METHODOLOGY/PRINCIPAL FINDINGS Eight pediatric hospitals distributed over(More)
Mutations that impair expression or function of the components of the phagocyte NADPH oxidase complex cause chronic granulomatous disease (CGD), which is associated with life-threatening infections and dysregulated granulomatous inflammation. In five CGD patients from four consanguineous families of two different ethnic backgrounds, we found similar genomic(More)
We describe a 3-year-old girl with partial trisomy 4p and partial monosomy 8p who had prenatal and postnatal growth retardation, mental retardation, no speech development, mild synophrys, hirsutism, apparently low-set ears, dysphonic hoarse voice, hyperactivity, and small hands with proximal placement of the thumbs. She had recurrent lung infections, due to(More)
We report studies on the etiology of uniparental disomy (UPD) in Silver-Russell syndrome (SRS) patients. Thirty-seven SRS families were typed with short tandem repeat markers from chromosomes 2, 7, 9, 14, and 16. UPD for these chromosomes has either been described in association with growth retardation or has been observed in confined placental mosaicism, a(More)