146 related articles for article (PubMed ID: 17230490)
1. Long-term follow-up of a 26-year-old male with duplication of 16p: clinical report and review.
Rochat MK; Riegel M; Schinzel AA
Am J Med Genet A; 2007 Feb; 143(4):399-408. PubMed ID: 17230490
[TBL] [Abstract][Full Text] [Related]
2. Anisomastia associated with interstitial duplication of chromosome 16, mental retardation, obesity, dysmorphic facies, and digital anomalies: molecular mapping of a new syndrome by fluorescent in situ hybridization and microsatellites to 16q13 (D16S419-D16S503).
Stratakis CA; Lafferty A; Taymans SE; Gafni RI; Meck JM; Blancato J
J Clin Endocrinol Metab; 2000 Sep; 85(9):3396-401. PubMed ID: 10999840
[TBL] [Abstract][Full Text] [Related]
3. A case of insertional translocation resulting in partial trisomy 16p.
Kokalj-Vokac N; Medica I; Zagorac A; Zagradisnik B; Erjavec A; Gregoric A
Ann Genet; 2000; 43(3-4):131-5. PubMed ID: 11164194
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Trisomy of chromosome 16p13.3 due to an unbalanced insertional translocation into chromosome 22p13.
de Ravel T; Aerssens P; Vermeesch JR; Fryns JP
Eur J Med Genet; 2005; 48(3):355-9. PubMed ID: 16179232
[TBL] [Abstract][Full Text] [Related]
6. De novo trisomy 16p.
Carrasco Juan JL; Cigudosa JC; Otero Gómez A; Acosta Almeida MT; García Miranda JL
Am J Med Genet; 1997 Jan; 68(2):219-21. PubMed ID: 9028462
[TBL] [Abstract][Full Text] [Related]
7. Partial trisomy 16q21➔qter due to an unbalanced segregation of a maternally inherited balanced translocation 46,XX,t(15;16)(p13;q21): a case report and review of literature.
Mishra R; Paththinige CS; Sirisena ND; Nanayakkara S; Kariyawasam UGIU; Dissanayake VHW
BMC Pediatr; 2018 Jan; 18(1):4. PubMed ID: 29310616
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Pure 9p trisomy derived from a terminal balanced unreciprocal translocation.
Brambila-Tapia AJ; Neira VA; Vásquez-Velásquez AI; Jimenez-Arredondo RE; Chávez-González EL; Picos-Cárdenas VJ; Fletes-Rayas AL; Figuera LE
Genet Couns; 2014; 25(3):289-97. PubMed ID: 25365851
[TBL] [Abstract][Full Text] [Related]
10. Syndrome of facial, oral, and digital anomalies due to 7q21.2-->q22.1 duplication.
Lukusa T; Fryns JP
Am J Med Genet; 1998 Dec; 80(5):454-8. PubMed ID: 9880208
[TBL] [Abstract][Full Text] [Related]
11. Distal Partial Trisomy 15q26 and Partial Monosomy 16p13.3 in a 36-Year-Old Male with Clinical Features of Both Chromosomal Abnormalities.
Cox DM; Butler MG
Cytogenet Genome Res; 2015; 145(1):29-34. PubMed ID: 25871641
[TBL] [Abstract][Full Text] [Related]
12. A unique combination of 17pter trisomy and 21qter monosomy in a boy with developmental delay, severe intellectual disability, growth retardation and dysmorphisms.
Zheng Z; Yao RE; Geng J; Jin X; Shen Y; Ying D; Fu Q; Yu Y
Gene; 2013 Mar; 516(2):301-6. PubMed ID: 23296059
[TBL] [Abstract][Full Text] [Related]
13. Partial trisomy 4(q31qter) due to maternal 4;5 balanced translocation in a neonate.
Senses DA; Silan F; Uzun H; Alagöz D; Zafer C; Kocabay K; Karaüzüm SB; Cetin Z
Genet Couns; 2007; 18(2):163-70. PubMed ID: 17710868
[TBL] [Abstract][Full Text] [Related]
14. Trisomy 20pter = to q11 in a malformed boy from a t(13;20)(p11;q11) translocation-carrier mother.
Schinzel A
Hum Genet; 1980 Feb; 53(2):169-72. PubMed ID: 7358383
[TBL] [Abstract][Full Text] [Related]
15. The 2p partial trisomy syndrome. Duplication of region 2p23 leads to 2pter in two members of a t(2;7) translocation kindred.
Francke U; Jones KL
Am J Dis Child; 1976 Nov; 130(11):1244-9. PubMed ID: 984008
[TBL] [Abstract][Full Text] [Related]
16. Trisomy 16q21 --> qter: Seven-year follow-up of a girl with unusually long survival.
de Carvalho AF; da Silva Bellucco FT; dos Santos NP; Pellegrino R; de Azevedo Moreira LM; Toralles MB; Kulikowski LD; Melaragno MI
Am J Med Genet A; 2010 Aug; 152A(8):2074-8. PubMed ID: 20635361
[TBL] [Abstract][Full Text] [Related]
17. Atypical 18p- syndrome associated with partial trisomy 16p in a chromosomally unbalanced child of consanguineous parents with an identical balanced translocation.
Kupchik GS; Barrett SK; Babu A; Charria-Ortiz G; Velinov M; Macera MJ
Eur J Med Genet; 2005; 48(1):57-65. PubMed ID: 15953407
[TBL] [Abstract][Full Text] [Related]
18. Distal monosomy 16p13.3/distal trisomy 2p24.2-pter: molecular-cytogenetic characterisation and phenotype.
Mach M; Windpassinger C; Wagner K; Kroisel PM; Petek E
Genet Couns; 2007; 18(1):9-16. PubMed ID: 17515297
[TBL] [Abstract][Full Text] [Related]
19. Patient with rheumatoid arthritis and MCA/MR syndrome due to unbalanced der(18) transmission of a paternal translocation t(18;20)(p11.1;p11.1).
Czakó M; Riegel M; Morava E; Schinzel A; Kosztolányi G
Am J Med Genet; 2002 Mar; 108(3):226-8. PubMed ID: 11891691
[TBL] [Abstract][Full Text] [Related]
20. M-banding characterization of a 16p11.2p13.1 tandem duplication in a child with autism, neurodevelopmental delay and dysmorphism.
Behjati F; Shafaghati Y; Firouzabadi SG; Kahrizi K; Bagherizadeh I; Najmabadi H; Bint S; Ogilvie C
Eur J Med Genet; 2008; 51(6):608-14. PubMed ID: 18674645
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]