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4. A severely mental and motor retarded boy with monosomy 9pter-->p22 trisomy 10q26-->qter due to paternal reciprocal translocation 46,XY,t(9;10)(p23;q26). Akbas E; Polat S; Karakas-Celik S; Altintas ZM; Yildirim M; Yilgor E Genet Couns; 2011; 22(4):417-23. PubMed ID: 22303803 [TBL] [Abstract][Full Text] [Related]
5. Ring chromosome 9 in a girl with developmental delay and dysmorphic features: case report and review of the literature. la Cour Sibbesen E; Jespersgaard C; Alosi D; Bisgaard AM; Tümer Z Am J Med Genet A; 2013 Jun; 161A(6):1447-52. PubMed ID: 23633410 [TBL] [Abstract][Full Text] [Related]
6. Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy. Valetto A; Orsini A; Bertini V; Toschi B; Bonuccelli A; Simi F; Sammartino I; Taddeucci G; Simi P; Saggese G Eur J Med Genet; 2012 May; 55(5):362-6. PubMed ID: 22548977 [TBL] [Abstract][Full Text] [Related]
7. A patient with 9q subtelomeric deletion syndrome with additional findings. Tug E; Cavdarli B; Karaoguz MY; Percin FE Genet Couns; 2012; 23(4):465-71. PubMed ID: 23431745 [TBL] [Abstract][Full Text] [Related]
8. De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature. Becker K; Di Donato N; Holder-Espinasse M; Andrieux J; Cuisset JM; Vallée L; Plessis G; Jean N; Delobel B; Thuresson AC; Annerén G; Ravn K; Tümer Z; Tinschert S; Schrock E; Jønch AE; Hackmann K Eur J Med Genet; 2012; 55(8-9):490-7. PubMed ID: 22561202 [TBL] [Abstract][Full Text] [Related]
9. Phenotypic features of pure 9p deletion in a male infant include cryptorchidism, congenital heart defects and postaxial polydactyly. Chen CP; Lin SP; Chen MR; Su JW; Chern SR; Chen YJ; Lee MS; Wang W Genet Couns; 2012; 23(2):195-200. PubMed ID: 22876577 [TBL] [Abstract][Full Text] [Related]
10. The ring 14 syndrome. Zollino M; Ponzi E; Gobbi G; Neri G Eur J Med Genet; 2012 May; 55(5):374-80. PubMed ID: 22564756 [TBL] [Abstract][Full Text] [Related]
11. Mild ring 17 syndrome shares common phenotypic features irrespective of the chromosomal breakpoints location. Surace C; Piazzolla S; Sirleto P; Digilio MC; Roberti MC; Lombardo A; D'Elia G; Tomaiuolo AC; Petrocchi S; Capolino R; El Hachem M; Claps Sepulveda D; Sgura A; Angioni A Clin Genet; 2009 Sep; 76(3):256-62. PubMed ID: 19793054 [TBL] [Abstract][Full Text] [Related]
12. Ring chromosome 13 with loss of the region D13S317-D13S285: phenotypic overlap with XK syndrome. Guala A; Dellavecchia C; Mannarino S; Rognone F; Giglio S; Minelli A; Danesino C Am J Med Genet; 1997 Oct; 72(3):319-23. PubMed ID: 9332662 [TBL] [Abstract][Full Text] [Related]
13. An unexpected finding in a child with neurological problems: mosaic ring chromosome 18. Koç A; Kan D; Karaer K; Ergün MA; Karaoğuz MY; Gücüyener K; Hinreiner S; Liehr T; Perçin EF Eur J Pediatr; 2008 Jun; 167(6):655-9. PubMed ID: 17668239 [TBL] [Abstract][Full Text] [Related]
14. TWINS WITH KLEEFSTRA SYNDROME DUE TO CHROMOSOME 9q34.3 MICRODELETION. Atik T; Karaca E; Ozkinay E; Cogulu O Genet Couns; 2015; 26(4):431-5. PubMed ID: 26852514 [TBL] [Abstract][Full Text] [Related]
15. Identification of a patient with intellectual disability and de novo 3.7 Mb deletion supports the existence of a novel microdeletion syndrome in 2p14-p15. Hancarova M; Vejvalkova S; Trkova M; Drabova J; Dleskova A; Vlckova M; Sedlacek Z Gene; 2013 Mar; 516(1):158-61. PubMed ID: 23266801 [TBL] [Abstract][Full Text] [Related]
16. Ring chromosome 17: phenotype variation by deletion size. Shashi V; White JR; Pettenati MJ; Root SK; Bell WL Clin Genet; 2003 Oct; 64(4):361-5. PubMed ID: 12974742 [TBL] [Abstract][Full Text] [Related]
17. Ring chromosome 7 in an Indian woman. Kaur A; Dhillon S; Garg PD; Singh JR J Intellect Dev Disabil; 2008 Mar; 33(1):87-94. PubMed ID: 18300171 [TBL] [Abstract][Full Text] [Related]
18. A further patient with van Maldergem syndrome. Neuhann TM; Müller D; Hackmann K; Holzinger S; Schrock E; Di Donato N Eur J Med Genet; 2012 Jun; 55(6-7):423-8. PubMed ID: 22469822 [TBL] [Abstract][Full Text] [Related]
19. Ring chromosome 13 in an Omani infant boy with mental retardation and multiple congenital anomalies. Venugopalan P; Kenue RK Saudi Med J; 2001 Sep; 22(9):800-3. PubMed ID: 11590457 [TBL] [Abstract][Full Text] [Related]
20. Variable behavioural phenotypes of patients with monosomies of 15q26 and a review of 16 cases. Poot M; Verrijn Stuart AA; van Daalen E; van Iperen A; van Binsbergen E; Hochstenbach R Eur J Med Genet; 2013 Jul; 56(7):346-50. PubMed ID: 23603061 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]