305 related articles for article (PubMed ID: 2288463)
1. Unusual mosaic trisomy 13 through 13/13 translocation and monosomy 13 with a small ring.
Jalal SM; Martin JA; Benjamin TR; Kukolich MK; Townsend-Parcham JK
Ann Genet; 1990; 33(3):173-5. PubMed ID: 2288463
[TBL] [Abstract][Full Text] [Related]
2. Mosaic 13 trisomy due to de novo 13/13 translocation with subsequent fission. Karyotype: 46,XX,-13, +t(13;13)(p11;q11)/46,XX,del(13)(p11). A second example.
Fryns JP; Kleczkowska A; Jaeken J; Van Herck K; Van den Berghe MH
Ann Genet; 1989; 32(3):177-9. PubMed ID: 2486064
[TBL] [Abstract][Full Text] [Related]
3. Trisomy/partial monosomy 13 mosaicism associated with relatively mild clinical malformation.
Duckett DP; Porter HJ; Young ID
Ann Genet; 1992; 35(2):113-6. PubMed ID: 1524408
[TBL] [Abstract][Full Text] [Related]
4. Mosaic r(13) resulting in large deletion of chromosome 13q in a newborn female with multiple congenital anomalies.
Lorentz CP; Jalal SM; Thompson DM; Babovic-Vuksanovic D
Am J Med Genet; 2002 Jul; 111(1):61-7. PubMed ID: 12124737
[TBL] [Abstract][Full Text] [Related]
5. Molecular and cytogenetic characterisation of an unusual case of partial trisomy/partial monosomy 13 mosaicism: 46,XX,r(13)(p11q14)/46,XX,der(13)t(13;13)(q10;q14).
Gentile M; Buonadonna AL; Cariola F; Fiorente P; Valenzano MC; Guanti G
J Med Genet; 1999 Jan; 36(1):77-82. PubMed ID: 9950374
[TBL] [Abstract][Full Text] [Related]
6. [Proximal monosomy 13].
Geormăneanu M; Geormăneanu C
Ann Genet; 1990; 33(3):176-8. PubMed ID: 2288464
[TBL] [Abstract][Full Text] [Related]
7. Trisomy/partial monosomy mosaicism of no. 13 pair [46, XX,--13, + rob(13q13q)/46, XX, r(13) (pllq34)].
Oka S; Nakagome Y; Teramura F; Hosono F; Katumata M
Jinrui Idengaku Zasshi; 1977 Sep; 22(2-3):73-8. PubMed ID: 604564
[No Abstract] [Full Text] [Related]
8. 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]
9. Mosaic rearrangement of chromosome 18: characterization by FISH mapping and DNA studies shows trisomy 18p and monosomy 18p both of paternal origin.
Oner G; Jauch A; Eggermann T; Hardwick R; Kirsch S; Schiebel K; Rappold G; Robson L; Smith A
Am J Med Genet; 2000 May; 92(2):101-6. PubMed ID: 10797432
[TBL] [Abstract][Full Text] [Related]
10. Duplication 2p and monosomy 8p in mosaicism: clinical, molecular cytogenetic and molecular markers of a unique case.
Martínez A; Ramos S; González-del Angel A; Alcántara MA; Molina B; Carnevale A
Rev Invest Clin; 2007; 59(6):444-8. PubMed ID: 18402336
[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. 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]
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. Skin pigment anomalies and mosaicism for a double autosomal trisomy (48,XX,+18,+20).
Devriendt K; Matthijs G; Meireleire J; Roelen L; van Buggenhout G; Fryns JP
Genet Couns; 1998; 9(4):283-6. PubMed ID: 9894166
[TBL] [Abstract][Full Text] [Related]
15. Trisomy first, translocation second, uniparental disomy and partial trisomy third: a new mechanism for complex chromosomal aneuploidy.
Schinzel A; Kotzot D; Brecevic L; Robinson WP; Dutly F; Dauwerse H; Binkert F; Baumer A; Ausserer B
Eur J Hum Genet; 1997; 5(5):308-14. PubMed ID: 9412788
[TBL] [Abstract][Full Text] [Related]
16. 46,XX,der(2)t(2;10)(2pter-->2q37::10p13-->10pter)[127]/45,X,der(2)t(2;10) (2pter-->2q37::10p13-->10pter)[23]. Karyotype-phenotype correlation and genetic counselling in complex karyotypes.
Grammatico P; Majore S; Marrocco G; Poscente M; Mordenti C; Grammatico B; Del Porto G
Genet Couns; 1999; 10(4):351-8. PubMed ID: 10631922
[TBL] [Abstract][Full Text] [Related]
17. Atypical Down syndrome phenotype in a girl with 21;21 translocation trisomy.
Tuysuz B; Yavuz A; Ozdil M; Caferler J; Ozon H
Genet Couns; 2010; 21(1):61-7. PubMed ID: 20420031
[TBL] [Abstract][Full Text] [Related]
18. De novo partial monosomy 21 with unusual karyotype.
Al-Awadi SA; Naguib KK; Teebi AS; Sundareshan TS
Jinrui Idengaku Zasshi; 1986 Mar; 31(1):45-8. PubMed ID: 3735757
[No Abstract] [Full Text] [Related]
19. The syndrome of ring chromosome 12.
Scribanu N; McCullars EB; Baumiller RC; Colon AR
Am J Med Genet; 1980; 5(2):165-70. PubMed ID: 7395909
[TBL] [Abstract][Full Text] [Related]
20. Familial partial trisomy of the long arm of chromosome 10 (q24-26).
Moreno-Fuenmayor H; Zackai EH; Mellman WJ; Aronson M
Pediatrics; 1975 Nov; 56(5):756-61. PubMed ID: 1196732
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
