172 related articles for article (PubMed ID: 8914742)
1. Interstitial deletion 5p accompanied by dicentric ring formation of the deleted segment resulting in trisomy 5p13-cen.
Schuffenhauer S; Kobelt A; Daumer-Haas C; Löffler C; Müller G; Murken J; Meitinger T
Am J Med Genet; 1996 Oct; 65(1):56-9. PubMed ID: 8914742
[TBL] [Abstract][Full Text] [Related]
2. Clinical phenotype and molecular analysis of a three-generation family with an interstitial deletion of the short arm of chromosome 5.
Keppen LD; Gollin SM; Edwards D; Sawyer J; Wilson W; Overhauser J
Am J Med Genet; 1992 Oct; 44(3):356-60. PubMed ID: 1488985
[TBL] [Abstract][Full Text] [Related]
3. Proximal 5p trisomy resulting from a marker chromosome implicates band 5p13 in 5p trisomy syndrome.
Avansino JR; Dennis TR; Spallone P; Stock AD; Levin ML
Am J Med Genet; 1999 Nov; 87(1):6-11. PubMed ID: 10528239
[TBL] [Abstract][Full Text] [Related]
4. Centric fission of chromosome 7 with 47,XX,del(7)(pter----cen::q21----qter)+cen fr karyotype in a mother and proximal 7q deletion in two malformed newborns.
Fryns JP; Kleczkowska A; Limbos C; Vandecasseye W; Van den Berghe H
Ann Genet; 1985; 28(4):248-50. PubMed ID: 3879440
[TBL] [Abstract][Full Text] [Related]
5. Interstitial deletion 2p accompanied by marker chromosome formation of the deleted segment resulting in a stable acentric marker chromosome.
Petit P; Fryns JP
Genet Couns; 1997; 8(4):341-3. PubMed ID: 9457505
[TBL] [Abstract][Full Text] [Related]
6. Interstitial deletion and ring chromosome derived from 19q. Proximal 19q trisomy phenotype.
Quack B; Van Roy N; Verschraegen-Spae MR; Klein F
Ann Genet; 1992; 35(4):241-4. PubMed ID: 1296524
[TBL] [Abstract][Full Text] [Related]
7. Supernumerary marker chromosomes 5: confirmation of a critical region and resultant phenotype.
D'Amato Sizonenko L; Ng D; Oei P; Winship I
Am J Med Genet; 2002 Jul; 111(1):19-26. PubMed ID: 12124728
[TBL] [Abstract][Full Text] [Related]
8. Complementary duplication and deletion of 17 (pcen----p11.2): a family with a supernumerary chromosome comprised of an interstitially deleted segment.
Friedman JM; Harrod MJ; Howard-Peebles PN
Am J Med Genet; 1992 Sep; 44(1):37-40. PubMed ID: 1519647
[TBL] [Abstract][Full Text] [Related]
9. Prenatal diagnosis of partial trisomy 14q (14q31.1-->qter) and partial monosomy 5p (5p13.2-->pter) associated with polyhydramnios, short limbs, micropenis and brain malformations.
Chen CP; Chern SR; Tsai EJ; Lee CC; Chen LF; Wang W
Genet Couns; 2009; 20(3):281-8. PubMed ID: 19852436
[No Abstract] [Full Text] [Related]
10. Newborn infant with inherited ring and de novo interstitial deletion on homologous chromosome 22s.
Wenger SL; Boone LY; Cummins JH; Del Vecchio MA; Bay CA; Hummel M; Mowery-Rushton PA
Am J Med Genet; 2000 Apr; 91(5):351-4. PubMed ID: 10766997
[TBL] [Abstract][Full Text] [Related]
11. Recurrent fetal syndromic spina bifida associated with 3q26.1-qter duplication and 5p13.33-pter deletion due to familial balanced rearrangement.
Preiksaitiene E; Benušienė E; Ciuladaite Z; Šliužas V; Mikštienė V; Kučinskas V
Taiwan J Obstet Gynecol; 2016 Jun; 55(3):410-4. PubMed ID: 27343325
[TBL] [Abstract][Full Text] [Related]
12. [46,XX/46,XX,del (10) (p13)/47,XX,+r/47,XX,del (10) (p13), + r mosaicism and partial trisomy 10p phenotype (author's transl)].
Turleau C; Rethoré MO; Junien C; Lejeune J; de Grouchy J
Ann Genet; 1979; 22(3):178-81. PubMed ID: 316677
[TBL] [Abstract][Full Text] [Related]
13. Interstitial deletion of the short arm of chromosome 4. A phenotype distinct from the Wolf-Hirschhorn syndrome.
Fryns JP; Yang-Aisheng ; Kleczkowska A; Lemmens F; Vandecasseye W; van den Berghe H
Ann Genet; 1989; 32(1):59-61. PubMed ID: 2751251
[TBL] [Abstract][Full Text] [Related]
14. Molecular studies of segmental aneusomy: FISHing for the atypical cry in del(5)(p15.3).
Hodge JC; Lawson-Yuen A; Stoler JM; Ligon AH
Cytogenet Genome Res; 2007; 119(1-2):15-20. PubMed ID: 18160776
[TBL] [Abstract][Full Text] [Related]
15. "Essentially pure" partial trisomy (6)(p23-->pter) in two brothers due to maternal t(6;17)(p23;p13.3).
Röthlisberger B; Kotzot D; Gnehm HE; Schinzel A
Am J Med Genet; 1999 Aug; 85(4):389-94. PubMed ID: 10398266
[TBL] [Abstract][Full Text] [Related]
16. 3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndrome.
Oexle K; Hempel M; Jauch A; Meitinger T; Rivera-Brugués N; Stengel-Rutkowski S; Strom T
Eur J Med Genet; 2011; 54(3):225-30. PubMed ID: 21211577
[TBL] [Abstract][Full Text] [Related]
17. Proximal 7q interstitial deletion in a severely mentally retarded and mildly abnormal infant.
Gillar PJ; Kaye CI; Ryan SG; Moore CM
Am J Med Genet; 1992 Sep; 44(2):138-41. PubMed ID: 1456281
[TBL] [Abstract][Full Text] [Related]
18. Partial tetrasomy with triplication of chromosome (5) (p14-p15.33) in a patient with severe multiple congenital anomalies.
Harrison KJ; Teshima IE; Silver MM; Jay V; Unger S; Robinson WP; James A; Levin A; Chitayat D
Am J Med Genet; 1998 Sep; 79(2):103-7. PubMed ID: 9741467
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Proximal interstitial deletion of 7q: a case report and review of the literature.
Zackowski JL; Raffel LJ; Blank CA; Schwartz S
Am J Med Genet; 1990 Jul; 36(3):328-32. PubMed ID: 2194394
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]