172 related articles for article (PubMed ID: 17330860)
1. Pure and complete trisomy 18p due to a supernumerary marker chromosome associated with moderate mental retardation.
Mabboux P; Brisset S; Aboura A; Pineau D; Koubi V; Joannidis S; Labrune P; Tachdjian G
Am J Med Genet A; 2007 Apr; 143A(7):727-33. PubMed ID: 17330860
[TBL] [Abstract][Full Text] [Related]
2. Supernumerary marker chromosome in a child with microcephaly and mental retardation.
Sheth F; Andrieux J; Sheth J
Indian Pediatr; 2010 Mar; 47(3):277-9. PubMed ID: 20371896
[TBL] [Abstract][Full Text] [Related]
3. Small supernumerary chromosome marker generating complete and pure trisomy 18p, characterized by molecular cytogenetic techniques and review.
Rodríguez L; Liehr T; Mrasek K; Mansilla E; Martínez-Fernández ML; Garcia A; Martínez-Frías ML
Am J Med Genet A; 2007 Nov; 143A(22):2727-32. PubMed ID: 17937429
[TBL] [Abstract][Full Text] [Related]
4. Trisomy 18p caused by a supernumerary marker with a chromosome 13/21 centromere: a possible recurrent chromosome aberration.
Plaja A; Lloveras E; Martinez-Bouzas C; Barreña B; Del Campo M; Fernández A; Herrero M; Barranco L; Palau N; López-Aríztegui MA; Català V; Tejada MI
Am J Med Genet A; 2013 Sep; 161A(9):2363-8. PubMed ID: 23894094
[TBL] [Abstract][Full Text] [Related]
5. A case of partial trisomy 2p23-pter syndrome with trisomy 18p due to a de novo supernumerary marker chromosome.
Lee JH; Cho HS; Lee ES; Jung BC
Korean J Lab Med; 2010 Jun; 30(3):312-7. PubMed ID: 20603594
[TBL] [Abstract][Full Text] [Related]
6. Two-Generation Transmission of Trisomy 18p: Prenatal Diagnosis in a Woman with Mild Intellectual Disability.
Yu Y; Jiang Y; Hu X; Zhang H; Liu R; Wang R
Cytogenet Genome Res; 2019; 157(4):220-226. PubMed ID: 30939474
[TBL] [Abstract][Full Text] [Related]
7. Partial trisomy of the short arm of chromosome 18 due to inversion duplication and direct duplication.
Moog U; Engelen JJ; de Die-Smulders CE; Albrechts JC; Loneus WH; Haagen AA; Raven EJ; Hamers AJ
Clin Genet; 1994 Dec; 46(6):423-9. PubMed ID: 7889659
[TBL] [Abstract][Full Text] [Related]
8. Partial trisomy of chromosome 18 (pter----q12) following a familial 18;21 translocation rcp(18;21)(q12;q11).
Binkert F; Stranzinger J; Schinzel A
Hum Hered; 1990; 40(2):81-4. PubMed ID: 2335369
[TBL] [Abstract][Full Text] [Related]
9. De novo complete trisomy 5p: clinical report and FISH studies.
Reichenbach H; Holland H; Dalitz E; Demandt C; Meiner A; Chudoba I; Lemke J; Claussen U; Froster UG
Am J Med Genet; 1999 Aug; 85(5):447-51. PubMed ID: 10405440
[TBL] [Abstract][Full Text] [Related]
10. Molecular characterization of a complex small supernumerary marker chromosome derived from chromosome 18p: an addition to the literature.
Marchina E; Forti M; Tonelli M; Maccarini S; Malvestiti F; Piantoni C; Filippini E; Fazzi E; Borsani G
Mol Cytogenet; 2021 Jan; 14(1):6. PubMed ID: 33472639
[TBL] [Abstract][Full Text] [Related]
11. De novo supernumerary ring chromosome 7: first report of a non-mosaic patient and review of the literature.
Velagaleti GV; Jalal SM; Kukolich MK; Lockhart LH; Tonk VS
Clin Genet; 2002 Mar; 61(3):202-6. PubMed ID: 12000362
[TBL] [Abstract][Full Text] [Related]
12. Distal monosomy 18p/distal trisomy 20p--a recognizable facial phenotype?
Wieczorek D; Bartsch O; Gillessen-Kaesbach G
Am J Med Genet A; 2003 Jul; 120A(3):429-33. PubMed ID: 12838568
[TBL] [Abstract][Full Text] [Related]
13. Trisomy 4q syndrome: presentation of a new case and review of the literature.
Lundin C; Zech L; Sjörs K; Wadelius C; Annerén G
Ann Genet; 2002; 45(2):53-7. PubMed ID: 12119211
[TBL] [Abstract][Full Text] [Related]
14. Structure, origin and effects of a supernumerary marker chromosome 15.
Schmid M; Schindler D; Haaf T
Clin Genet; 1986 Jul; 30(1):63-71. PubMed ID: 3463440
[TBL] [Abstract][Full Text] [Related]
15. Mosaic rearrangement of chromosome 18: characterization by FISH mapping and DNA studies shows trisomy 18p and monosomy 18p both of paternal origin.
Oner G; Jauch A; Eggermann T; Hardwick R; Kirsch S; Schiebel K; Rappold G; Robson L; Smith A
Am J Med Genet; 2000 May; 92(2):101-6. PubMed ID: 10797432
[TBL] [Abstract][Full Text] [Related]
16. Trisomy 17p10-p12 due to mosaic supernumerary marker chromosome: delineation of molecular breakpoints and clinical phenotype, and comparison to other proximal 17p segmental duplications.
Yatsenko SA; Treadwell-Deering D; Krull K; Lewis RA; Glaze D; Stankiewicz P; Lupski JR; Potocki L
Am J Med Genet A; 2005 Oct; 138A(2):175-80. PubMed ID: 16152635
[TBL] [Abstract][Full Text] [Related]
17. Identification of autosomal supernumerary chromosome markers (SMCs) by fluorescent in situ hybridization (FISH).
Kolialexi A; Kitsiou S; Fryssira H; Sofocleous C; Kouvidi E; Tsangaris GT; Salavoura K; Mavrou A
In Vivo; 2006; 20(4):473-8. PubMed ID: 16900777
[TBL] [Abstract][Full Text] [Related]
18. Molecular genetic analysis of partial 9p trisomy in two Chinese families with mental retardation and facial anomaly.
Feng A; Dai X; Wang X; Gao Y; Luo R; Li Y; Zhang N; Liu J
J Huazhong Univ Sci Technolog Med Sci; 2011 Aug; 31(4):570. PubMed ID: 21823024
[TBL] [Abstract][Full Text] [Related]
19. A study of ten small supernumerary (marker) chromosomes identified by fluorescence in situ hybridization (FISH).
Rauch A; Pfeiffer RA; Trautmann U; Liehr T; Rott HD; Ulmer R
Clin Genet; 1992 Aug; 42(2):84-90. PubMed ID: 1424236
[TBL] [Abstract][Full Text] [Related]
20. Partial trisomy of the pericentromeric region of chromosome 5 in a girl with binder phenotype.
Hadzsiev K; Dávid D; Szabó G; Czakó M; Melegh B; Kosztolányi G
Cytogenet Genome Res; 2014; 144(3):190-5. PubMed ID: 25531548
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]