317 related articles for article (PubMed ID: 16719274)
1. Congenital anomalies and developmental delay in a boy with double chromosome 6 derived supernumerary marker.
Oldak M; Waligora J; Gieruszczak-Bialek D; Skorka A; Bocian E; Brycz-Witkowska J; Stankiewicz P; Korniszewski L
Genet Couns; 2006; 17(1):29-34. PubMed ID: 16719274
[TBL] [Abstract][Full Text] [Related]
2. Tetrasomy 12pter-12p13.31 in a girl with partial Pallister-Killian syndrome phenotype.
Vermeesch JR; Melotte C; Salden I; Riegel M; Trifnov V; Polityko A; Rumyantseva N; Naumchik I; Starke H; Matthijs G; Schinzel A; Fryns JP; Liehr T
Eur J Med Genet; 2005; 48(3):319-27. PubMed ID: 16179227
[TBL] [Abstract][Full Text] [Related]
3. Identification of supernumerary ring chromosome 1 mosaicism using fluorescence in situ hybridization.
Chen H; Tuck-Muller CM; Batista DA; Wertelecki W
Am J Med Genet; 1995 Mar; 56(2):219-33. PubMed ID: 7625449
[TBL] [Abstract][Full Text] [Related]
4. Mosaic tetrasomy 15q25-->qter in a newborn infant with multiple anomalies.
Van den Enden A; Verschraegen-Spae MR; Van Roy N; Decaluwe W; De Praeter C; Speleman F
Am J Med Genet; 1996 Jun; 63(3):482-5. PubMed ID: 8737657
[TBL] [Abstract][Full Text] [Related]
5. Mosaic tetrasomy 8p in two patients: clinical data and review of the literature.
Schrander-Stumpel CT; Govaerts LC; Engelen JJ; van der Blij-Philipsen M; Borghgraef M; Loots WJ; Peters JJ; Rijnvos WP; Smeets DF; Fryns JP
Am J Med Genet; 1994 May; 50(4):377-80. PubMed ID: 7516121
[TBL] [Abstract][Full Text] [Related]
6. Terminal deletion of the long arm of chromosome 2 in a mildly dysmorphic hypotonic infant with karyotype 46,XY,del(2)(q37).
Gorski JL; Cox BA; Kyine M; Uhlmann W; Glover TW
Am J Med Genet; 1989 Mar; 32(3):350-2. PubMed ID: 2729355
[TBL] [Abstract][Full Text] [Related]
7. Pallister-Killian Syndrome (PKS) as a Cause of Mental Retardation.
Shamdeen A; Meyer S; Gottschling S; Oehl-Jaschkowitz B; Gortner L; Shamdeen MG
Klin Padiatr; 2009; 221(2):97-9. PubMed ID: 19067289
[TBL] [Abstract][Full Text] [Related]
8. Supernumerary marker chromosome 5 diagnosed by M-FISH in a child with congenital heart defect and unusual face.
Sarri C; Gyftodimou Y; Grigoriadou M; Pandelia E; Kalogirou S; Kokotas H; Mrasek K; Weise A; Petersen MB
Cytogenet Genome Res; 2006; 114(3-4):330-7. PubMed ID: 16954675
[TBL] [Abstract][Full Text] [Related]
9. A large analphoid invdup(3)(q22.3qter) marker chromosome characterized by array-CGH in a child with malformations, mental retardation, ambiguous genitalia and Blaschko's lines.
Gimelli G; Giorda R; Beri S; Gimelli S; Zuffardi O
Eur J Med Genet; 2007; 50(4):264-73. PubMed ID: 17567547
[TBL] [Abstract][Full Text] [Related]
10. Characterization of a supernumerary small marker X chromosome in two females with similar phenotypes.
Tümer Z; Wolff D; Silahtaroglu AN; Orum A; Brøndum-Nielsen K
Am J Med Genet; 1998 Feb; 76(1):45-50. PubMed ID: 9508064
[TBL] [Abstract][Full Text] [Related]
11. Trisomy first, translocation second, uniparental disomy and partial trisomy third: a new mechanism for complex chromosomal aneuploidy.
Schinzel A; Kotzot D; Brecevic L; Robinson WP; Dutly F; Dauwerse H; Binkert F; Baumer A; Ausserer B
Eur J Hum Genet; 1997; 5(5):308-14. PubMed ID: 9412788
[TBL] [Abstract][Full Text] [Related]
12. Clinical findings and cytogenetic analysis of small supernumerary ring chromosomes 7: report of two new cases.
Chantot-Bastaraud S; Muti C; Pipiras E; Routon MC; Roubergue A; Burglen L; Siffroi JP; Simon-Bouy B
Ann Genet; 2004; 47(3):241-9. PubMed ID: 15337469
[TBL] [Abstract][Full Text] [Related]
13. Mosaic tetrasomy 8p.
Newton D; Hammond L; Wiley J; Kushnick T
Am J Med Genet; 1993 Jun; 46(5):513-6. PubMed ID: 8322811
[TBL] [Abstract][Full Text] [Related]
14. Non-mosaic tetrasomy 9p in a liveborn infant with multiple congenital anomalies: case report and comparison with trisomy 9p.
Leichtman LG; Zackowski JL; Storto PD; Newlin A
Am J Med Genet; 1996 Jun; 63(3):434-7. PubMed ID: 8737648
[TBL] [Abstract][Full Text] [Related]
15. Trisomy 1q43 syndrome: a consistent phenotype with macrocephaly, characteristic face, developmental delay and cardiac anomalies.
Morava E; Jackson KE; Tsien F; Marble MR
Genet Couns; 2004; 15(4):449-53. PubMed ID: 15658621
[TBL] [Abstract][Full Text] [Related]
16. Partial trisomy 15 in a male with severe psychomotor retardation (48, XY, + 15q -, + mar(15)).
Voss R; Lerer I; Maftzir G; Sheinis M; Cohen MM
Am J Med Genet; 1982 Jun; 12(2):131-9. PubMed ID: 7102721
[TBL] [Abstract][Full Text] [Related]
17. Small familial supernumerary ring chromosome 2: FISH characterization and genotype-phenotype correlation.
Giardino D; Finelli P; Russo S; Gottardi G; Rodeschini O; Atza MG; Natacci F; Larizza L
Am J Med Genet; 2002 Aug; 111(3):319-23. PubMed ID: 12210331
[TBL] [Abstract][Full Text] [Related]
18. Characterization of a small supernumerary ring marker derived from chromosome 2 by forward and reverse chromosome painting.
Ostroverkhova NV; Nazarenko SA; Rubtsov NB; Nazarenko LP; Bunina EN
Am J Med Genet; 1999 Nov; 87(3):217-20. PubMed ID: 10564873
[TBL] [Abstract][Full Text] [Related]
19. Array-CGH and clinical findings in a patient with a small supernumerary r(8) mosaicism.
Eyüpoğlu FC; Sünnetçi D; Cine N; Savli H; Okten A; Açikgöz EG; Sönmez FM
Genet Couns; 2014; 25(3):305-13. PubMed ID: 25365853
[TBL] [Abstract][Full Text] [Related]
20. Pallister-Killian syndrome: report of one case.
Wu HC; Lin LH; Tsai LP; Huang CH; Hung KL; Liao HT
Acta Paediatr Taiwan; 2006; 47(3):139-41. PubMed ID: 17078467
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
