160 related articles for article (PubMed ID: 12868476)
1. Small inherited terminal duplication of 7q with hydrocephalus, cleft palate, joint contractures, and severe hypotonia.
Morava E; Bartsch O; Czakó M; Frensel A; Kalscheuer V; Kárteszi J; Kosztolányi G
Clin Dysmorphol; 2003 Apr; 12(2):123-7. PubMed ID: 12868476
[TBL] [Abstract][Full Text] [Related]
2. Boy with seizures (West syndrome) and distal 7q duplication syndrome due to an unbalanced 7q;9p translocation.
Tüysüz B; Demirel A; Uysal S; Beyer V; Bartsch O
Genet Couns; 2008; 19(1):29-35. PubMed ID: 18564498
[TBL] [Abstract][Full Text] [Related]
3. Prenatal diagnosis of partial trisomy 3p(3p23-->pter) and monosomy 7q(7q36-->qter) in a fetus with microcephaly alobar holoprosencephaly and cyclopia.
Chen CP; Devriendt K; Lee CC; Chen WL; Wang W; Wang TY
Prenat Diagn; 1999 Oct; 19(10):986-9. PubMed ID: 10521829
[TBL] [Abstract][Full Text] [Related]
4. Strong variable clinical presentation in 3 patients with 7q terminal deletion.
Frints SG; Schrander-Stumpel CT; Schoenmakers EF; Engelen JJ; Reekers AB; Van den Neucker AM; Smeets E; Devlieger H; Fryns JP
Genet Couns; 1998; 9(1):5-14. PubMed ID: 9555580
[TBL] [Abstract][Full Text] [Related]
5. Pericentric inversion with partial 7(q35-->qter) duplication and 7pter deletion: diagnosis by cytogenetic and fish analysis in a 29-year-old male patient.
Lukusa T; Van Buggenhout G; Devriendt K; Fryns JP
Genet Couns; 2002; 13(1):1-10. PubMed ID: 12017231
[TBL] [Abstract][Full Text] [Related]
6. A report of a patient with duplication of 7p13-->pter and deletion of 2p23-->pter due to a maternal 2p;7p translocation.
Türköver BB; Sayar C; Toksoy G; Elçioğlu N
Turk J Pediatr; 2009; 51(2):174-9. PubMed ID: 19480332
[TBL] [Abstract][Full Text] [Related]
7. Confirmation of proximal 1q duplication using fluorescence in situ hybridization.
Chen H; Kusyk CJ; Tuck-Muller CM; Martinez JE; Dorand RD; Wertelecki W
Am J Med Genet; 1994 Mar; 50(1):28-31. PubMed ID: 8160749
[TBL] [Abstract][Full Text] [Related]
8. Prenatal detection of a de novo terminal inverted duplication 4p in a fetus with the Wolf-Hirschhorn syndrome phenotype.
Beaujard MP; Jouannic JM; Bessières B; Borie C; Martin-Luis I; Fallet-Bianco C; Portnoï MF
Prenat Diagn; 2005 Jun; 25(6):451-5. PubMed ID: 15966060
[TBL] [Abstract][Full Text] [Related]
9. Two independent chromosomal rearrangements, a very small (550 kb) duplication of the 7q subtelomeric region and an atypical 17q11.2 (NF1) microdeletion, in a girl with neurofibromatosis.
Bartsch O; Vlcková Z; Erdogan F; Ullmann R; Novotná D; Spiegel M; Beyer V; Haaf T; Zechner U; Seemanová E
Cytogenet Genome Res; 2007; 119(1-2):158-64. PubMed ID: 18160797
[TBL] [Abstract][Full Text] [Related]
10. Molecular characterization of partial trisomy 16q24.1-qter: clinical report and review of the literature.
Brisset S; Joly G; Ozilou C; Lapierre JM; Gosset P; LeLorc'h M; Raoul O; Turleau C; Vekemans M; Romana SP
Am J Med Genet; 2002 Dec; 113(4):339-45. PubMed ID: 12457405
[TBL] [Abstract][Full Text] [Related]
11. A cryptic duplication 22q13.31 to qter leads to a distinct phenotype with mental retardation, microcephaly and mild facial dysmorphism.
Peeters H; Vermeesch J; Fryns JP
Genet Couns; 2008; 19(4):365-71. PubMed ID: 19239079
[TBL] [Abstract][Full Text] [Related]
12. Clinical diagnosis of partial duplication 7q.
Bartsch O; Kalbe U; Ngo TK; Lettau R; Schwinger E
Am J Med Genet; 1990 Oct; 37(2):254-7. PubMed ID: 2248294
[TBL] [Abstract][Full Text] [Related]
13. A cryptic unbalanced translocation t(2;9)(p25.2;q34.3) causes the phenotype of 9q subtelomeric deletion syndrome and additional exophthalmos and joint contractures.
Busche A; Klopocki E; Ullmann R; Mundlos S; Horn D
Eur J Med Genet; 2008; 51(6):615-21. PubMed ID: 18674647
[TBL] [Abstract][Full Text] [Related]
14. Duplication of distal 15q: report of five new cases from two different translocation kindreds.
Lacro RV; Jones KL; Mascarello JT; Jones OW; Wilson N; Jones MC
Am J Med Genet; 1987 Mar; 26(3):719-28. PubMed ID: 3565485
[TBL] [Abstract][Full Text] [Related]
15. A case of de novo translocation 7; 10 and the duplication 7p, deletion 10p phenotype.
Park JP; McDermet MK; Moeschler JB; Wurster-Hill DH
Ann Genet; 1993; 36(4):217-20. PubMed ID: 8166428
[TBL] [Abstract][Full Text] [Related]
16. A child with multiple congenital anomalies due to partial trisomy 7q22.1 → qter resulting from a maternally inherited balanced translocation: a case report and review of literature.
Paththinige CS; Sirisena ND; Kariyawasam UGIU; Ediriweera RC; Kruszka P; Muenke M; Dissanayake VHW
BMC Med Genomics; 2018 May; 11(1):44. PubMed ID: 29739404
[TBL] [Abstract][Full Text] [Related]
17. Trisomy chromosome (22)(q13.1-qter) as a result of paternal inversion (22)(p11q13.1) proved using region-specific FISH probes.
Hou JW
Chang Gung Med J; 2005 Sep; 28(9):657-61. PubMed ID: 16323558
[TBL] [Abstract][Full Text] [Related]
18. Subtelomeric familial translocation t(2;7)(q37;q35) leading to partial trisomy 7q35-->qter: molecular cytogenetic analysis and clinical phenotype in two generations.
Speleman F; Callens B; Logghe K; Van Roy N; Horsley SW; Jauch A; Verschraegen-Spae MR; Leroy JG
Am J Med Genet; 2000 Aug; 93(5):349-54. PubMed ID: 10951456
[TBL] [Abstract][Full Text] [Related]
19. Partial trisomy of the distal part of 10q: a report of two Egyptian cases.
Aglan MS; Kamel AK; Helmy NA
Genet Couns; 2008; 19(2):199-209. PubMed ID: 18618995
[TBL] [Abstract][Full Text] [Related]
20. Prenatal diagnosis of holoprosencephaly in two fetuses with der (7)t(1;7)(q32;q32)pat inherited from the father with double translocations.
Chuang L; Kuo PL; Yang HB; Chien CH; Chen PY; Chang CH; Chang FM
Prenat Diagn; 2003 Feb; 23(2):134-7. PubMed ID: 12575020
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
