FOIA This site needs JavaScript to work properly. ↵ 4. A novel de novo partial xq duplication in a girl with short stature, nonverbal learning disability and diminished ovarian reserve - effect of growth hormone treatment and fertility preservation strategies: a case report and up-to-date review. (2009) noted that the duplicated region of chromosome Xq28 harbored by affected individuals did not contain the MECP2 gene (300005) and is thus distinct from the duplicated region associated with MECP2 duplication syndrome (300260). 8600 Rockville Pike Shimada S, Okamoto N, Ito M, Arai Y, Momosaki K, Togawa M, et al. Females With MECP2 (Xq28) Duplication - Support Group has 155 members. We also characterized a 508 kb Xq28 duplication encompassing MECP2 in her younger brother with hypotonia, poor speech, cognitive and motor impairment. The occipitofrontal circumference varied considerably between >+2SD in five patients and <-2SD in four patients. Most people with this condition also have weak muscle tone in infancy, feeding difficulties, poor or absent speech, or muscle stiffness (rigidity). Schematic representation of part of the Xq28 region. Signorini C, De Felice C, Leoncini S, Møller RS, Zollo G, Buoni S, Cortelazzo A, Guerranti R, Durand T, Ciccoli L, D'Esposito M, Ravn K, Hayek J. PLoS One. Other signs and symptoms may include recurrent respiratory infections and seizures. MECP2 duplication syndrome is a severe neurological and developmental … a. In the present study, we examine the relationship between duplication size, gene content, and overall phenotype in MDS using a clinical severity scale. Duplications leading to functional disomy of chromosome Xq28, including MECP2 as the critical dosage-sensitive gene, are associated with a distinct clinical phenotype in males, characterized by severe mental retardation, infantile hypotonia, progressive neurologic impairment, recurrent infections, bladder dysfunction, and absent speech. This region is known to be syntenically equivalent to human Xq28, and, with the exception of F8A, locus order is conserved between the 2 species. MECP2 is just one of the many genes that lie within the Xq28 segment of the X chromosome. 49 y, age at last examination; d 15 y, died at the age of 15 years. 2018 Mar;176(3):551-559. doi: 10.1002/ajmg.a.38524. doi: 10.1212/WNL.0000000000006742. We present clinical and molecular data on a series of five females with an Xq28 duplication including the MECP2 gene, both isolated and as the result of a translocation, and compare them with the previously reported cases of small duplications in females. eCollection 2018 Dec. Ward DI, Buckley BA, Leon E, Diaz J, Galegos MF, Hofherr S, Lewanda AF. 2015. The only patient harboring bilateral posterior subependymal nodular heterotopia also carried an FLNA gene duplication. Accessibility Epub 2008 Nov 5. Spectrum and time course of epilepsy and the associated cognitive decline in. Distal Xq duplication and functional Xq disomy. 8600 Rockville Pike Am J Med Genet A. This group has been created for the families and carer's of females affected by MECP2 Duplication (Xq28 duplication). The MECP2 Duplication Syndrome is usually caused by duplication of DNA on the Xq28 region of the chromosome. Female patients with Xq duplications including MECP2 are rare. The MeCP2 protein plays a pivotal role in regulating brain function. -. Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling? Genet. Please enable it to take advantage of the complete set of features! Intellectual disability and epilepsy due to the K/L-mediated Xq28 duplication: Further evidence of a distinct, dosage-dependent phenotype. Clipboard, Search History, and several other advanced features are temporarily unavailable. 2018 Mar;176(3):551-559. doi: 10.1002/ajmg.a.38524. Keywords: Epub 2017 Feb 16. 2010;152A:1079–1088. FOIA Karyotype. MECP2 Duplication Syndrome (MDS) is a severe neurological disorder diagnosed primarily in boys that affects almost every system in the body.