687 related articles for article (PubMed ID: 9219006)
1. Partial trisomy 15q: report of a patient and literature review.
Chandler K; Schrander-Stumpel CT; Engelen J; Theunissen P; Fryns JP
Genet Couns; 1997; 8(2):91-7. PubMed ID: 9219006
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Duplication of chromosome region (16)(p11.2 --> p12.1) in a mother and daughter with mild mental retardation.
Engelen JJ; de Die-Smulders CE; Dirckx R; Verhoeven WM; Tuinier S; Curfs LM; Hamers AJ
Am J Med Genet; 2002 Apr; 109(2):149-53. PubMed ID: 11977164
[TBL] [Abstract][Full Text] [Related]
4. Partial monosomy 8p and partial trisomy 8p with moderate mental retardation.
van Balkom ID; Hagendoorn J; De Pater JM; Hennekam RC
Genet Couns; 1992; 3(2):83-9. PubMed ID: 1642815
[TBL] [Abstract][Full Text] [Related]
5. [Partial trisomy of the short arm of chromosome 3. Case report and phenotype expression].
Frankova YE; Holenova H; Braulke I
Monatsschr Kinderheilkd; 1991 Dec; 139(12):841-3. PubMed ID: 1770961
[TBL] [Abstract][Full Text] [Related]
6. Direct duplication 16q11.1----16q13 is not associated with a typical dysmorphic syndrome.
Fryns JP; Kleczkowska A; Decock P; Van den Berghe H
Ann Genet; 1990; 33(1):46-8. PubMed ID: 2195981
[TBL] [Abstract][Full Text] [Related]
7. Further delineation of 7p trisomy. Case report and review of literature.
Pallotta R; Dalprà L; Fusilli P; Zuffardi O
Ann Genet; 1996; 39(3):152-8. PubMed ID: 8839888
[TBL] [Abstract][Full Text] [Related]
8. [Phenotype positioning on chromosomes in a patient with the syndrome of partial trisomy 7p21.2-->pter].
Liang DS; Wu LQ; Cai F; Xia K; Long ZG; Pan Q; Dai HP; Xia JH
Yi Chuan Xue Bao; 2005 Feb; 32(2):124-9. PubMed ID: 15759858
[TBL] [Abstract][Full Text] [Related]
9. Partial duplication of the short arm of chromosome 2 (dup(2)(p13----p21) associated with mental retardation and an Aarskog-like phenotype.
Fryns JP; Kleczkowska A; Kenis H; Decock P; Van den Berghe H
Ann Genet; 1989; 32(3):174-6. PubMed ID: 2573314
[TBL] [Abstract][Full Text] [Related]
10. [Partial 10q trisomy (q24;q ter) caused by a balanced maternal translocation t(6;10)(q26;q24)].
Aledo AG; Gracia R; López Pajares I; González M; Oliver A; Peralta A
An Esp Pediatr; 1982 Aug; 17(2):125-9. PubMed ID: 7149479
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Prenatal diagnosis of partial trisomy 1q using fluorescent in situ hybridization.
DuPont BR; Huff RW; Ridgway LE; Stratton RF; Moore CM
Am J Med Genet; 1994 Mar; 50(1):21-7. PubMed ID: 8160748
[TBL] [Abstract][Full Text] [Related]
13. Maternal balanced translocation (4;21) leading to an offspring with partial duplication of 4q and 21q without phenotypic manifestations of Down syndrome.
El-Ruby M; Hemly NA; Zaki MS
Genet Couns; 2007; 18(2):217-26. PubMed ID: 17710874
[TBL] [Abstract][Full Text] [Related]
14. Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature.
Faivre L; Gosset P; Cormier-Daire V; Odent S; Amiel J; Giurgea I; Nassogne MC; Pasquier L; Munnich A; Romana S; Prieur M; Vekemans M; De Blois MC; Turleau C
Eur J Hum Genet; 2002 Nov; 10(11):699-706. PubMed ID: 12404101
[TBL] [Abstract][Full Text] [Related]
15. Molecular cytogenetic determination of a deletion/duplication of 1q that results in a trisomy 18 syndrome-like phenotype.
Mewar R; Harrison W; Weaver DD; Palmer C; Davee MA; Overhauser J
Am J Med Genet; 1994 Aug; 52(2):178-83. PubMed ID: 7802005
[TBL] [Abstract][Full Text] [Related]
16. [Postaxial polydactyly: a symptom of partial trisomy of the long arm of chromosome 13. Two new observations with 46, XX, t (22;13) (q13;q31) and 46, XY, Dup (13) (pter-q34::q22-qter) (author's transl)].
Kessel E; Pfeiffer RA; Baisch C
Klin Padiatr; 1980 Jan; 192(1):85-90. PubMed ID: 7188997
[TBL] [Abstract][Full Text] [Related]
17. Partial trisomy of chromosome 18 (pter leads to q11): a discussion on the identification of the critical segment.
San Martin V; Fernandez-Novoa C; Hevia A; Novales A; Fornell J; Galera H
Ann Genet; 1981; 24(4):248-50. PubMed ID: 6977308
[TBL] [Abstract][Full Text] [Related]
18. Precocious puberty associated with partial trisomy 18q and monosomy 11q.
Mutesa L; Hellin AC; Jamar M; Pierquin G; Bours V; Verloes A
Genet Couns; 2007; 18(2):201-7. PubMed ID: 17710872
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]
