290 related articles for article (PubMed ID: 10398266)
1. "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]
2. Double partial trisomy of 6p23-pter and 9pter-q21.2 in a neonate resulting from 4:2 meiotic segregation of a maternal complex t(6;7;9)(p23;p15;q21.2) translocation.
Cetin Z; Mihci E; Keser I; Karaali K; Berker S; Luleci G
Genet Couns; 2012; 23(2):239-47. PubMed ID: 22876583
[TBL] [Abstract][Full Text] [Related]
3. Miller-Dieker syndrome and trisomy 5p in a child carrying a derivative chromosome with a microdeletion in 17p13.3 telomeric to the LIS1 and the D17S379 loci.
Mutchinick OM; Shaffer LG; Kashork CD; Cervantes EI
Am J Med Genet; 1999 Jul; 85(2):99-104. PubMed ID: 10406660
[TBL] [Abstract][Full Text] [Related]
4. Dup(1q)(q42-->qter) syndrome: case report and review of literature.
Kennerknecht I; Barbi G; Rodens K
Am J Med Genet; 1993 Dec; 47(8):1157-60. PubMed ID: 7507296
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements: description in a boy with partial trisomy 10q and monosomy 4q and review of the literature.
Bartholdi D; Toelle SP; Steiner B; Boltshauser E; Schinzel A; Riegel M
Eur J Med Genet; 2008; 51(2):113-23. PubMed ID: 18262484
[TBL] [Abstract][Full Text] [Related]
7. Distal monosomy 16p13.3/distal trisomy 2p24.2-pter: molecular-cytogenetic characterisation and phenotype.
Mach M; Windpassinger C; Wagner K; Kroisel PM; Petek E
Genet Couns; 2007; 18(1):9-16. PubMed ID: 17515297
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. Miller-Dieker syndrome due to maternal cryptic translocation t(10;17) (q26.3;p13.3).
Masuno M; Imaizumi K; Nakamura M; Matsui K; Goto A; Kuroki Y
Am J Med Genet; 1995 Dec; 59(4):441-3. PubMed ID: 8585563
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Trisomy of 8q22.3 approximately q23-qter following an unbalanced 1;8 translocation in a boy with multiple anomalies.
Ergun MA; Balci S; Konaç E; Kan D; Menevşe S; Bartsch O
Turk J Pediatr; 2004; 46(4):384-7. PubMed ID: 15641279
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. [A new case of trisomy 5p].
Antonenko VG; Levina LIa; Chudnova VI
Genetika; 1985 Dec; 21(12):2066-70. PubMed ID: 4085794
[TBL] [Abstract][Full Text] [Related]
15. Follow-up of a patient with partial trisomy 9p and partial monosomy 8p; description of physical and psychosocial development.
Ausems MG; Van Spijker HG; Dijkhuis HJ; Swanenburg De Veye HF; Bijlsma JB
Genet Couns; 1996; 7(1):61-5. PubMed ID: 8652090
[TBL] [Abstract][Full Text] [Related]
16. Trisomy 3 (p23-pter) resulting from maternal translocation, t (3 ; 4)(p23 ; q35).
Schinzel A; Hanson JW; Pagon RA; Hoehn H; Smith DW
Ann Genet; 1978 Sep; 21(3):168-71. PubMed ID: 315193
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. Unbalanced 4;6 translocation and progressive renal disease.
Pierpont ME; Hentges AS; Gears LJ; Hirsch B; Sinaiko A
Am J Med Genet; 2000 Nov; 95(3):275-80. PubMed ID: 11102935
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]