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Lia Boyle Mirjam M.C. Wamelink Gajja S. Salomons Birthe Roos Ana Pop Andrew Dauber Vivian Hwa Melissa Andrew Jessica Douglas Murray Feingold Nancy Kramer Sulagna Saitta Kyle Retterer Megan T. Cho Amber Begtrup Kristin G. Monaghan Julia Wynn Wendy K. Chung 《American journal of human genetics》2016,98(6):1235-1242
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Keren Machol Justine Rousseau Sophie Ehresmann Thomas Garcia Thi Tuyet Mai Nguyen Rebecca C. Spillmann Jennifer A. Sullivan Vandana Shashi Yong-hui Jiang Nicholas Stong Elise Fiala Marcia Willing Rolph Pfundt Tjitske Kleefstra Megan T. Cho Heather McLaughlin Monica Rosello Piera Carmen Orellana Philippe M. Campeau 《American journal of human genetics》2019,104(1):164-178
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Vivian Alejandra Neira Pavel Romero-Espinoza Augusto Rojas-Martínez Rocío Ortiz-López Carlos Córdova-Fletes Alberto Plaja Patricio Barros-Núñez 《Gene》2013
Xq28 duplication, including the MECP2 gene, is among the most frequently identified Xq subtelomeric rearrangements. The resulting clinical phenotype is named Lubs syndrome and mainly consists of intellectual disability, congenital hypotonia, absent speech, recurrent infections, and seizures. Here we report a Mexican male patient carrying a supernumerary marker chromosome with de novo Xq28 gain. By MLPA, duplication of MECP2, GDI1, and SLC6A8 was found and a subsequent a-CGH analysis demonstrated that the gain spanned ~ 2.1 Mb. Despite gain of the MECP2 gene, the features of this patient do not evoke Lubs syndrome. Probably the mosaicism of the supernumerary marker chromosome is modifying the phenotype in this patient. 相似文献