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17q21.31 Microdeletion: Brain Anomalies Leading to Prenatal Diagnosis

Egloff, Matthieu ; Encha-Razavi, Ferechte ; Garel, Catherine ; Bonnière-Darcy, Maryse ; Millischer, Anne-Elodie ; Lapierre, Jean-Michel ; Fontaine, Sophie ; de Blois, Marie-Christine ; Vekemans, Michel ; Turleau, Catherine ; Ville, Yves ; Malan, Valérie

Cytogenetic and Genome Research, February 2015, Vol.144(3), pp.178-182 [Peer Reviewed Journal]

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17q21.31 Microdeletion Syndrome: Further Expanding the Clinical Phenotype

Sharkey, F.H ; Morrison, N ; Murray, R ; Iremonger, J ; Stephen, J ; Maher, E ; Tolmie, J ; Jackson, A.P

Cytogenetic and Genome Research, March 2010, Vol.127(1), pp.61-66 [Peer Reviewed Journal]

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2q33.1q34 Deletion in a Girl with Brain Anomalies and Anorectal Malformation

Ronzoni, Luisa ; Novelli, Antonio ; Brisighelli, Giulia ; Peron, Angela ; Triulzi, Fabio ; Bianchi, Vera ; Leva, Ernesto ; Bedeschi, Maria F

Cytogenetic and Genome Research, January 2017, Vol.150(1), pp.23-28 [Peer Reviewed Journal]

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2q37.3 Deletion Syndrome: Two Cases with Highly Distinctive Facial Phenotype, Discordant Association with Schizophrenic Psychosis, and Shared Deletion Breakpoint Region on 2q37.3

Mehraein, Yasmin ; Pfob, Martina ; Steinlein, Ortrud ; Aichinger, Eric ; Eggert, Marlene ; Bubendorff, Valerie ; Mannhart, Adelina ; Müller, Stefan

Cytogenetic and Genome Research, September 2015, Vol.146(1), pp.33-38 [Peer Reviewed Journal]

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35-Year Follow-Up of a Case of Ring Chromosome 2: Array-CGH Analysis and Literature Review of the Ring Syndrome

Sarri, Catherine ; Douzgou, Sofia ; Kontos, Haris ; Anagnostopoulou, Katherine ; Tümer, Zeynep ; Grigoriadou, Maria ; Petersen, Michael B ; Kokotas, Haris ; Merou, Konstantina ; Pandelia, Efi ; Giouroukou, Elena ; Papanikolaou, Katerina ; Côté, Gilbert B ; Gyftodimou, Yolanda

Cytogenetic and Genome Research, June 2015, Vol.145(1), pp.6-13 [Peer Reviewed Journal]

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45,X/46,X,r(Y)/46,X,dic r(Y) Karyotype in an Azoospermic Male: A Case Report

Dong, Y ; Yu, X.W ; Wang, R.X ; Li, L.L ; Jiang, Y.T ; Liu, R.Z

Cytogenetic and Genome Research, February 2014, Vol.142(2), pp.140-144 [Peer Reviewed Journal]

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47,X,idic(Y),inv dup(Y): A Non-Mosaic Case of a Phenotypically Normal Boy with Two Different Y Isochromosomes and Neocentromere Formation

Pasantes, J.J ; Wimmer, R ; Knebel, S ; Münch, C ; Kelbova, C ; Junge, A ; Kieback, P ; Küpferling, P ; Schempp, W

Cytogenetic and Genome Research, March 2012, Vol.136(2), pp.157-162 [Peer Reviewed Journal]

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47,XY,+der(X)t(X;18)(p11.4;p11.22): A Unique Aneuploidy Associated with Klinefelter Syndrome due to an Extra Derivative X Chromosome Inherited Maternally

Liang, Ji ; Zhang, Yongsheng ; Wang, Ruixue ; Liang, Zuowen ; Yue, Jiaming ; Liu, Ruizhi

Cytogenetic and Genome Research, November 2015, Vol.146(3), pp.204-210 [Peer Reviewed Journal]

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A 17q21.31 microdeletion encompassing the MAPT gene in a mentally impaired patient

Varela, M.C ; Krepischi-Santos, A.C.V ; Paz, J.A ; Knijnenburg, J ; Szuhai, K ; Rosenberg, C ; Koiffmann, C.P

Cytogenetic and Genome Research, May 2006, Vol.114(1), pp.89-92 [Peer Reviewed Journal]

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A 1q44 deletion, paternal UPD of chromosome 2 and a deletion due to a complex translocation detected in children with abnormal phenotypes using new SNP array technology

Talseth-Palmer, B.A ; Bowden, N.A ; Meldrum, C ; Nicholl, J ; Thompson, E ; Friend, K ; Liebelt, J ; Bratkovic, D ; Haan, E ; Yu, S ; Scott, R.J

Cytogenetic and Genome Research, April 2009, Vol.124(1), pp.94-101 [Peer Reviewed Journal]

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