Proximal 19p13.12 microdeletion has been rarely reported. Only five postnatal cases with intellectual disability, facial dysmorphism, branchial arch defects and overlapping deletions involving proximal 19p13.12 have been documented. Two critical intervals were previously defined: a 700 kb for branchial arch defects and a 350 kb for hypertrichosis-synophrys-protruding front teeth. We describe the first prenatal case, a fetal death in utero at 39 weeks of gestation. Agilent 180K array-CGH analysis identified a heterozygous interstitial 745 kb deletion at 19p13.12 chromosome region, encompassing both previously reported critical intervals, including at least 6 functionally relevant genes: NOTCH3, SYDE1, AKAP8, AKAP8L, WIZ and BRD4. Quantitative PCR showed that the deletion occurred de novo with a median size of 753 kb. NOTCH3 and SYDE1 were candidate genes for placental pathology whilst AKAP8, AKAP8L, WIZ and BRD4 were highly expressed in the branchial arches. Molecular characterization and sequencing of candidate genes for placental pathology and branchial arch defects were carried out in order to correlate the genotype-phenotype relationship and unravel the underlying mechanism of proximal 19p13.12 microdeletion syndrome. This case also contributes to define the novel critical interval and expand the clinical phenotype spectrum of proximal 19p13.12 microdeletion syndrome.
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http://dx.doi.org/10.1016/j.ejmg.2018.01.009 | DOI Listing |
Pediatr Radiol
January 2025
Department of Pediatric Genetics, Istanbul University-Cerrahpaşa, Cerrahpasa Medical Faculty, 34098, Cerrahpasa, Istanbul, Turkey.
Background: Heterozygous TRPV4 mutations cause a group of skeletal dysplasias characterized by short stature, short trunk, and skeletal deformities.
Objective: The aim of this study is to compare the natural history of clinical and radiologic features of patients with different TRPV4-related skeletal dysplasias.
Materials And Methods: Thirteen patients with a mutation in TRPV4 were included in the study, and 11 were followed for a median of 6.
Purpose: Previous studies have shown that subtrochanteric femoral fractures treated with intramedullary nails might lead to varus-procurvatum malalignment. Similar results have been reported when using antegrade intramedullary lengthening nails (ILNs). The purpose of our study is to examine if antegrade telescoping intramedullary lengthening nails lead to varus-procurvatum malalignment of the proximal femur and what are possible predictors of that shift.
View Article and Find Full Text PDFSkeletal Radiol
January 2025
Department of Trauma, Hand and Reconstructive Surgery, University Hospital Jena, Am Klinikum 1, 07747, Jena, Germany.
Objective: This study is aimed at evaluating the distribution of metastatic bone disease (MBD), with a particular focus on the humerus, and its association with pathological fractures. Factors for contributing to the underestimation of fracture risk were assessed, including their impact on surgical management.
Materials And Methods: We retrospectively reviewed patient records of patients undergoing surgical treatment for MBD at our institution between 2005 and 2023.
Rev Gastroenterol Peru
January 2025
Centro de Gastroenterología, Bogotá, Colombia; Gastroenterología y endoscopia digestiva, Universidad Nacional de Colombia, Bogotá, Colombia; Gastroenterología, Hospital Universitario Nacional de Colombia, Bogotá, Colombia.
In this article, we present an exceptionally rare and challenging clinical case. It concerns a 65-year-old woman who, while eating, accidentally ingested a thorn. This foreign body, after being swallowed, migrated from the proximal esophagus, until it penetrated the left internal jugular vein.
View Article and Find Full Text PDFMuscle Nerve
January 2025
Department of Public Health and Community Medicine, Tufts University School of Medicine, Boston, Massachusetts, USA.
Introduction/aims: The standard procedure to establish reference values in a neuromuscular laboratory involves examining healthy controls, as nerve size varies with the population and muscle echo intensity (EI) is device-specific. We aimed to derive these reference values by extrapolation from a studied sample (the e-norms method), compare them with published reference values, and determine their diagnostic accuracy.
Methods: We retrospectively analyzed data from consecutive patients who underwent nerve and/or muscle ultrasound in our ultrasound laboratory, which is a tertiary referral center for neuromuscular diseases in Southern Poland in the years 2018-2023.
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