sSMC derived from chromosome 18

References:

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      0.   Liehr et al., Unpublished data

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     Am J Med Genet. 1988 Apr;29(4):871-874.

104. Manvelyan M, Riegel M, Santos M, Fuster C, Pellestor F, Mazauric ML, Schulze B, Polityko A, Tittelbach H, Reising-Ackermann G, Belitz B, Hehr U, Kelbova C, Volleth M, Gödde E, Anderson J, Küpferling P, Köhler S, Duba HC, Dufke A, Aktas D, Martin T, Schreyer I, Ewers E, Reich D, Mrasek K, Weise A, Liehr T.
     32 new cases with small supernumerary marker chromosomes (sSMC) detected in connection with fertility problems - detailed molecular cytogenetic characterization and review of the literature.
     Int J Mol Med 2008, 21(6):705-714.

105. Starke H, Senger G, Kossakiewicz M, Tittelbach H, Rau D, Rubtsov N, Trifonov V, Heller A, Hartmann I, Claussen U, Liehr T.
     Maternal insertion of 18q11.2-q12.2 in 18p11.3 of the same chromosome analysed by microdissection and multicolour banding (MCB).
     Prenat Diagn. 2001 Dec;21(12):1049-1052.

106. Chudley AE, Bauder F, Ray M, McAlpine PJ, Pena SD, Hamerton JL.
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107. Wolff DJ, Raffel LJ, Ferré MM, Schwartz S.
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108. Trifonov V, Fluri S, Binkert F, Nandini A, Anderson J, Rodriguez L, Gross M, Kosyakova N, Mkrtchyan H, Ewers E, Reich D, Weise A, Liehr T.
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     Mol Cytogenet. 2008 Apr 15;1(1):6.

109. Ballif BC, Rorem EA, Sundin K, Lincicum M, Gaskin S, Coppinger J, Kashork CD, Shaffer LG, Bejjani BA.
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110. Valentin M, Ottenwalter A, Serero S, Muller F, Luton D, Ducarme G.
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111. Polityko AD, Lazjuk GI, Liehr T.
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     Medica Genetics 2008, 7(3):34-40. (in Russian) 

112. Zawada M, Jarmuz M, Wojda A, Kolowska J, Mazurek M, Latos-Bielenska A.
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113. Guilhas C, Palmares MC, Santos MC, Coreiro I, Medeira A, Castedo S, Rendeiro P, Santos HG.
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114. Lybæk H, Meza-Zepeda LA, Kresse SH, Høysæter T, Steen VM, Houge G.
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115. Schinzel A
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116. Pfeiffer RA, Schulze T.
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117. Pinto MR, Silva ML, Ribeiro MC, Pina R.
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118. Schinzel A
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119. Gruchy N, Lebrun M, Herlicoviez M, Alliet J, Gourdier D, Kottler ML, Mittre H, Leporrier N.
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120. Batista DAS, Lisi EC, Wohler E, Walsh M, Hoon A, Cohn R, Hoover-Fong JE
     "Classical" Cytogenetics: Not dead yet.
     ASHG 2009; abstract only online, information from poster.

121. Kim M, Park C, Park S, Kim M, Lee B, Lee M, Kim D, Ryu H.
     Prenatal diagnosis of a de novo mosaic isochromosome 18p : karyotype discordance between amniocytes and fetal/neonatal blood.
     ASHG 2009; abstract only online, information from poster.

122. Aktas D, Utine GE, Alanay Y, Boduroglu K, Alikasifoglu M.
     Constitutional Abnormalities of Chromosome 18: Hacettepe University Experience.
     ASHG 2009; abstract only online, information from poster.

123. Tihy F, Oprea L, Lemyre E.
     Extra structurally abnormal chromosomes: experience of a prenatal diagnostic laboratory during 11 years.
     ASHG 2009; abstract only online, information from poster.

124. Sheth F, Andrieux J, Sheth J.
     Supernumerary marker chromosome in a child with microcephaly and mental retardation.
     Indian Pediatr. 2010 Mar 7;47(3):277-9.

125. van der Veken LT, Dieleman MM, Douben H, van de Brug JC, van de Graaf R, Hoogeboom AJ, Poddighe PJ, de Klein A.
     Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple congenital anomalies.
     Mol Cytogenet. 2010 Jul 9;3:13.

126. Dundar M, Caglayan AO, Saatci C, Cetin Z, Arslan K, Uzak AS.
     A case with a rare chromosomal abnormality: isochromosome 18p.
     Genet Couns. 2010;21(1):69-74.

127. DeBerardinis RJ, Medne L, Spinner NB, Zackai EH.
     DiGeorge anomaly in a patient with isochromosome 18p born to a diabetic mother.
     Am J Med Genet A. 2005 Oct 1;138A(2):155-9.

128. Manolakos E, Kefalas K, Neroutsou R, Lagou M, Kosyakova N, Ewers E, Ziegler M, Weise A, Tsoplou P, Rapti S-M, Papoulidis I, Anastasakis E, Garas A, Sotiriou S, Eleftheriades M, Peitsidis P, Μalathrakis D, Thomaidis L, Kitsos G, Orru S, Liehr T, Petersen MB, Kitsiou-Tzeli S.
     Characterization of 23 small supernumerary marker chromosomes detected at pre-natal diagnosis: The value of fluorescence in situ hybridization.
     Mol Med Rep 2010, 3:1015-1022.

129. Sebold C, Roeder E, Zimmerman M, Soileau B, Heard P, Carter E, Schatz M, White WA, Perry B, Reinker K, O'Donnell L, Lancaster J, Li J, Hasi M, Hill A, Pankratz L, Hale DE, Cody JD.
     Tetrasomy 18p: report of the molecular and clinical findings of 43 individuals.
     Am J Med Genet A. 2010 Sep;152A(9):2164-72.

130. Lee JH, Cho HS, Lee ES, Jung BC.
     A case of partial trisomy 2p23-pter syndrome with trisomy 18p due to a de novo supernumerary marker chromosome.
     Korean J Lab Med. 2010 Jun;30(3):312-7.

131. Chen CP, Lin CC, Su YN, Tsai FJ, Chen JT, Chern SR, Lee CC, Town DD, Chen LF, Wu PC, Wang W.
     Prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome derived from chromosome 18 and associated with a reciprocal translocation involving chromosomes 17 and 18.
     Taiwan J Obstet Gynecol. 2010 Jun;49(2):188-91.

132. Bajaj K, Simard M, Klugma S.
     Confined Placental Mosaicism For Tetrasomy - Be Careful Not To Falsely Reassure
     ASHG 2010; abstract 1674 - only online.

133. Martinez J, Briceno I, Brigmon M, Venegas A.
     47,XX,iso(18p) Case History.
     ASHG 2010; abstract 760 - only online.

134. Zavala J, Ramirez M, Medina R, Heard P, Carter E, Crandall A, Hale D, Cody J, Escamilla M.
     Psychiatric syndromes in individuals with chromosome 18 abnormalities.
     Am J Med Genet B Neuropsychiatr Genet. 2010 Apr 5;153B(3):837-45.

135. Swingle HM, Ringdahl J, Mraz R, Patil S, Keppler-Noreuil K.
     Behavioral management of a long-term survivor with tetrasomy 18p.
     Am J Med Genet A. 2006 Feb 1;140(3):276-80.

136. Balkan M, Duran H, Budak T.
     Tetrasomy 18p in a male dysmorphic child in southeast Turkey.
     J Genet. 2009 Dec;88(3):337-40.

137. Nucaro A, Chillotti I, Pisano T, Pruna D, Cianchetti C.
     Progressive spastic paraplegia as a feature of tetrasomy 18p.
     Am J Med Genet A. 2010 Sep;152A(9):2173-5.

138. Brambila Tapia AJ, Figuera L, Vázquez Cárdenas NA, Ramírez Torres V, Vázquez Velázquez AI, García Contreras C, Ramírez Dueñas ML.
     The variable phenotype in tetrasomy 18p syndrome. A propos of a subtle dysmorphic case.
     Genet Couns. 2010;21(3):277-83.

139. Sheth FJ, Andrieux J, Ewers E, Kosyakova N, Weise A, Sheth H, Romana SP, Lelorc'h M, Delobel B, Theisen O, Liehr T, Nampoothiri S, Sheth J.
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     Eur J Med Genet. 2011 Feb 10. [Epub ahead of print]

140. Balci S, Tümer C, Karaca C, Bartsch O.
     Familial ring (18) mosaicism in a 23-year-old young adult with 46,XY,r(18) (::p11→q21::)/46,XY karyotype, intellectual disability, motor retardation and single maxillary incisor and in his phenotypically normal mother, karyotype 47,XX,+r(18)(::p11→q21::)/46,XX.
     Am J Med Genet A. 2011 May;155(5):1129-35.

141. Slavin TP, Kuruvilla K, Curtis CA, Christ LA, Mitchell AL.
     Isolated skeletal malformations in a child with a small mosaic ring microduplication of 18 p11.21q11.2: Genotype-phenotype correlations.
     Am J Med Genet A. 2011 Feb 22.

142. Protta JRM, Sgardioli IC, Vieira TP, Gil-da-Silva-Lopes VL.
     Case report: additional malformations in isochromosome 18p syndrome
     Europ J Hum Genet 2011, Vol 19 (Suppl. 2) p82 (Abstractnr. P02.062)

143. Plaiasu VN, Ochiana1 D, Motei1 G, Neagu E, Iancu B, Iancu D.
     Constitutional tetrasomy 18p in a female child - a new case report
     Europ J Hum Genet 2011, Vol 19 (Suppl. 2) p 151 (Abstractnr. P03.087)

144. Rosa MM, Lluis A, Ramon B, Montse A.
     Identification of a supernumerary marker chromosome in mosaicism in prenatal diagnostics.
     Chromosome Res 2011, Vol 19 (Suppl. 1), p S206 (Abstractnr. 10.P10 - information from poster)

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