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Frederik Heldt Hannah Wallaschek Tim Ripperger Susanne Morlot Thomas Illig Thomas Eggermann Brigitte Schlegelberger Caroline Scholz Doris Steinemann 《European journal of medical genetics》2018,61(8):421-427
We report here on the first family with short stature and Silver-Russell-like phenotype due to a microdeletion in 12q14.3. The Netchine-Harbison clinical scoring system was used for the clinical diagnosis of Silver-Russell syndrome (SRS). The three affected first-degree relatives (index patient, mother and brother) presented with prenatal and postnatal growth retardation, feeding difficulties, a prominent forehead and a failure to thrive, but did not show relative macrocephaly. In addition, our index patient showed dysmorphic facial features, periodically increased sweating, and scoliosis. Learning problems and cardiac arrhythmia presented as additional features of her brother. Using high-resolution array-CGH, heterozygosity for a 1.67?Mb deletion in 12q14.3 was detected in the index patient. The heterozygous loss was confirmed by MLPA in the index patient and the other two affected family members. The deletion includes the genes HMGA2, LLPH, TMBIM4, IRAK3, HELB, GRIP1, and the pseudogene RPSAP52. We conclude from these results and from the data of other patients reported in the literature that haploinsufficiency of HMGA2 leads to the short stature in this family. 相似文献
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Chloe K. Nobuhara Sarah L. DeVos Caitlin Commins Susanne Wegmann Benjamin D. Moore Allyson D. Roe Isabel Costantino Matthew P. Frosch Rose Pitstick George A. Carlson Christoph Hock Roger M. Nitsch Fabio Montrasio Jan Grimm Anne E. Cheung Anthone W. Dunah Marion Wittmann Thierry Bussiere Shuko Takeda 《The American journal of pathology》2017,187(6):1399-1412
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Balasai Sundarasetty Valery Volk Sebastian J. Theobald Susanne Rittinghausen Dirk Schaudien Vanessa Neuhaus Constanca Figueiredo Andreas Schneider Laura Gerasch Adele Mucci Thomas Moritz Constantin von Kaisenberg Loukia M. Spineli Katherina Sewald Armin Braun Henning Weigt Arnold Ganser Renata Stripecke 《The American journal of pathology》2017,187(6):1380-1398
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Satu Lehti Su D. Nguyen Ilya Belevich Helena Vihinen Hanna M. Heikkilä Rabah Soliymani Reijo Käkelä Jani Saksi Matti Jauhiainen Gregory A. Grabowski Outi Kummu Sohvi Hörkkö Marc Baumann Perttu J. Lindsberg Eija Jokitalo Petri T. Kovanen Katariina Öörni 《The American journal of pathology》2018,188(2):525-538