154 related articles for article (PubMed ID: 9664215)
1. Identification of a de novo 46, XY,4p+ with incomplete Wolf-Hirschhorn syndrome as 46,XY,der(4)t(4;8)(p16.3;p23.1).
Petit P; Vermeersch JR; Fryns JP
Genet Couns; 1998; 9(2):157-8. PubMed ID: 9664215
[No Abstract] [Full Text] [Related]
2. [Paternally originated Wolf-Hirschhorn syndrome detected by multiplex ligation-dependent probe amplification and microarray comparative genomic hybridization].
Zhu CJ; Huang ZY; Wu WQ; Zhao Q; Jiang HY; Xie JS
Zhonghua Er Ke Za Zhi; 2012 Jun; 50(6):460-4. PubMed ID: 22931946
[TBL] [Abstract][Full Text] [Related]
3. Two sibs with different phenotypes due to adjacent-1 segregation of a subtle translocation t(4;5)(p16.3;p15.3)mat.
Qumsiyeh MB; Stevens CA
Am J Med Genet; 1993 Sep; 47(3):387-91. PubMed ID: 8135287
[TBL] [Abstract][Full Text] [Related]
4. Microdissection and DOP-PCR-based reverse chromosome painting as a fast and reliable strategy in the analysis of various structural chromosome abnormalities.
Müller-Navia J; Nebel A; Oehler D; Theile U; Zabel B; Schleiermacher E
Prenat Diagn; 1996 Oct; 16(10):915-22. PubMed ID: 8938060
[TBL] [Abstract][Full Text] [Related]
5. Familial translocation resulting in Wolf-Hirschhorn syndrome in two related unbalanced individuals: clinical evaluation of a 39-year-old man with Wolf-Hirschhorn syndrome.
Wheeler PG; Weaver DD; Palmer CG
Am J Med Genet; 1995 Feb; 55(4):462-5. PubMed ID: 7762587
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Interstitial deletion of distal chromosome 4p in a patient without classical Wolf-Hirschhorn syndrome.
Estabrooks LL; Rao KW; Korf B
Am J Med Genet; 1993 Jan; 45(1):97-100. PubMed ID: 8418669
[TBL] [Abstract][Full Text] [Related]
8. Molecular and cytogenetic characterization of a recurrent unbalanced translocation (4;21)(p16.3;q22.1): relevance to the Wolf-Hirschhorn and Down syndrome critical regions.
Sebastio G; Perone L; Guzzetta V; Sebastio L; Vicari L; Della Casa R; Gurrieri F; Zappata S; Pomponi MG; Mazzei A; Neri G; Andria G; Brahe C
Am J Med Genet; 1996 May; 63(2):366-72. PubMed ID: 8725787
[TBL] [Abstract][Full Text] [Related]
9. Unusual chromosomal mosaicism in Wolf-Hirschhorn syndrome: del(4)(p16)/der(4)(qter-q31.3::pter-qter).
Syrrou M; Borghgraef M; Fryns JP
Am J Med Genet; 2001 Dec; 104(3):199-203. PubMed ID: 11754044
[TBL] [Abstract][Full Text] [Related]
10. A practical application of fluorescent in situ hybridization to the Wolf-Hirschhorn syndrome.
Fagan K; Colley P; Partington M
Pediatrics; 1994 May; 93(5):826-7. PubMed ID: 8165089
[No Abstract] [Full Text] [Related]
11. Trisomy 3q2 and Pierre-Robin sequence in a boy with unbalanced 46,XY, der(10), t(3;10)(q23;q26.3) de novo karyotype.
Kleczkowska A; Fryns JP; Moerman F; Martens M; Eggermont E; Jaeken J; Van den Berghe H
Helv Paediatr Acta; 1988 Nov; 43(3):245-8. PubMed ID: 3220792
[TBL] [Abstract][Full Text] [Related]
12. A patient with Wolf-Hirschhorn syndrome originating from translocation t(4;8) (p16.3;q24.3)pat.
el-Rifai W; Leisti J; Kähkönen M; Pietarinen A; Altherr MR; Knuutila S
J Med Genet; 1995 Jan; 32(1):65-7. PubMed ID: 7897631
[TBL] [Abstract][Full Text] [Related]
13. Characterization of a derivative chromosome 17 by fish-technique.
Ramesh KH; Shah HO; Sherman J; Lin JH; Verma RS
Ann Genet; 1996; 39(3):177-80. PubMed ID: 8839891
[TBL] [Abstract][Full Text] [Related]
14. 4p terminal deletion and 11p subtelomeric duplication detected by genomic microarray in a patient with Wolf-Hirschhorn syndrome and an atypical phenotype.
Stevenson DA; Carey JC; Cowley BC; Bayrak-Toydemir P; Mao R; Brothman AR
J Pediatr; 2004 Dec; 145(6):840-2. PubMed ID: 15580214
[TBL] [Abstract][Full Text] [Related]
15. Proximal trisomy 13q and distal monosomy 8p in a dysmorphic and mentally retarded patient with an isodicentric chromosome 13q and a 13q/8p translocation chromosome.
Lukusa T; van den Berghe L; Smeets E; Fryns JP
Ann Genet; 1999; 42(4):215-20. PubMed ID: 10674161
[TBL] [Abstract][Full Text] [Related]
16. De novo inv del(4) in an infant with the Wolf-Hirschhorn syndrome.
Serville F; Saura R; Billeaud C; Girard S; Choiset A; Longy M; Sandler B
Ann Genet; 1987; 30(3):170-4. PubMed ID: 3499855
[TBL] [Abstract][Full Text] [Related]
17. De novo translocation involving chromosomes 1 and 4 resulting in partial duplication of 4q and partial deletion of 1p.
Legare JM; Sekhon GS; Laxova R
Am J Med Genet; 1994 Nov; 53(3):216-21. PubMed ID: 7856655
[TBL] [Abstract][Full Text] [Related]
18. Delineation of a supernumerary marker chromosome utilizing a multimodal approach of G-banding, fluorescent in situ hybridization, confirmatory P1 artificial chromosome fluorescent in situ hybridization, and high-resolution comparative genomic hybridization.
Mark HF; Wyandt H; Huang XL; Milunsky JM
Clin Genet; 2005 Aug; 68(2):146-51. PubMed ID: 15996211
[TBL] [Abstract][Full Text] [Related]
19. A dysmorphic newborn infant with a complex rearrangement involving chromosomes 2, 4, and 6 detected by fluorescence in situ hybridization (FISH).
Hoffman DJ; Punnett HH; Pyeritz RE
Am J Perinatol; 2004 Feb; 21(2):69-71. PubMed ID: 15017469
[TBL] [Abstract][Full Text] [Related]
20. De novo complex chromosome rearrangement: a study of two patients.
Melo DG; Huber J; Giuliani LR; Mazzucatto LF; Riegel M; Pina-Neto JM
Genet Couns; 2004; 15(3):303-10. PubMed ID: 15517822
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
