246 related articles for article (PubMed ID: 8448905)
1. 46,XY del(18)(q21.3q22.2) with mosaicism of r(18) and a milder form of the 18q- syndrome.
Maaswinkel-Mooij PD; de Jong P; Beverstock GC
Clin Genet; 1993 Feb; 43(2):76-8. PubMed ID: 8448905
[TBL] [Abstract][Full Text] [Related]
2. 18q- and 18q+ mosaicism in a mentally retarded boy.
Ausems MG; Bhola SL; Post-Blok CA; Hennekam RC; de France HF
Am J Med Genet; 1994 Nov; 53(3):296-9. PubMed ID: 7856666
[TBL] [Abstract][Full Text] [Related]
3. Triple structural mosaicism of chromosome 18 in a child with MR/MCA syndrome and abnormal skin pigmentation.
Bocian E; Mazurczak T; Buława E; Stańczak H; Rowicka G
J Med Genet; 1993 Jul; 30(7):614-5. PubMed ID: 8411041
[TBL] [Abstract][Full Text] [Related]
4. An unexpected finding in a child with neurological problems: mosaic ring chromosome 18.
Koç A; Kan D; Karaer K; Ergün MA; Karaoğuz MY; Gücüyener K; Hinreiner S; Liehr T; Perçin EF
Eur J Pediatr; 2008 Jun; 167(6):655-9. PubMed ID: 17668239
[TBL] [Abstract][Full Text] [Related]
5. Ring chromosome 20 with loss of telomeric sequences detected by multicolour PRINS.
Brandt CA; Kierkegaard O; Hindkjaer J; Jensen PK; Pedersen S; Therkelsen AJ
Clin Genet; 1993 Jul; 44(1):26-31. PubMed ID: 8403451
[TBL] [Abstract][Full Text] [Related]
6. Unusual cytogenetic mosaicism involving chromosome 14 abnormalities in a child with an MR/MCA syndrome and abnormal pigmentation.
Cantú ES; Thomas IT; Frias JL
Clin Genet; 1989 Sep; 36(3):189-95. PubMed ID: 2676269
[TBL] [Abstract][Full Text] [Related]
7. Transmission of ring chromosome 18 46,XX/46,XX,r(18) mosaicism in a mother and ring chromosome 18 syndrome in her son.
Fryns JP; Kleczkowska A; Smeets E; Van Den Berghe H
Ann Genet; 1992; 35(2):121-3. PubMed ID: 1524410
[TBL] [Abstract][Full Text] [Related]
8. Autistic disorder and chromosomal mosaicism 46,XY[123]/46,XY,del(20)(pter --> p12.2)[10].
Sauter S; von Beust G; Burfeind P; Weise A; Starke H; Liehr T; Zoll B
Am J Med Genet A; 2003 Aug; 120A(4):533-6. PubMed ID: 12884434
[TBL] [Abstract][Full Text] [Related]
9. Ring chromosome 22 in a mentally retarded child and mosaic 45,XX,-15,-22,+t(15;22)(p11;q11)/46,XX,r(22)/46,XX karyotype in the mother.
Fryns JP; Van den Berghe H
Hum Genet; 1979 Mar; 47(2):213-6. PubMed ID: 437787
[TBL] [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. Transmission of a ring chromosome 18 from a mother with 46,XX/47,XX, + r(18) mosaicism to her daughter, resulting in a 46,XX,r(18) karyotype.
Jenderny J; Caliebe A; Beyer C; Grote W
J Med Genet; 1993 Nov; 30(11):964-5. PubMed ID: 8301656
[TBL] [Abstract][Full Text] [Related]
12. A patient with isochromosome 18q, radial-thumb aplasia, thrombocytopenia, and an unbalanced 10;18 chromosome translocation.
Sahoo T; Naeem R; Pham K; Chheng S; Noblin ST; Bacino CA; Gambello MJ
Am J Med Genet A; 2005 Feb; 133A(1):93-8. PubMed ID: 15637724
[TBL] [Abstract][Full Text] [Related]
13. Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 or r(8)(::p12→q13.1::) associated with phenotypic abnormalities.
Chen CP; Lin SP; Lin YH; Chern SR; Wu PS; Chen YN; Chen SW; Yang CW; Chen WL; Wang W
Taiwan J Obstet Gynecol; 2016 Dec; 55(6):852-855. PubMed ID: 28040132
[TBL] [Abstract][Full Text] [Related]
14. A case of ring (9)/del(9p) mosaicism associated with gastroesophageal reflux.
Leung AK; Rudd NL
Am J Med Genet; 1988 Jan; 29(1):43-8. PubMed ID: 3344775
[TBL] [Abstract][Full Text] [Related]
15. Additional case of de novo interstitial deletion del(17)(q21.3q23) and expansion of the phenotype.
Khalifa MM; MacLeod PM; Duncan AM
Clin Genet; 1993 Nov; 44(5):258-61. PubMed ID: 7906212
[TBL] [Abstract][Full Text] [Related]
16. [Genetic analysis of a case with mosaicism complex structural aberration of chromosome 18].
Shao M; Yan Z; Zhu X; Yan L; Qiao J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Jan; 41(1):101-105. PubMed ID: 38171568
[TBL] [Abstract][Full Text] [Related]
17. Four copies of 8p in a mentally retarded boy with the mosaic karyotype 47,XY, + i(8p)/46,XY.
Kristoffersson U; Lagergren J; Heim S; Mandahl N
Clin Genet; 1988 Sep; 34(3):201-3. PubMed ID: 3180507
[TBL] [Abstract][Full Text] [Related]
18. Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation.
Chabchoub E; Rodríguez L; Galán E; Mansilla E; Martínez-Fernandez ML; Martínez-Frías ML; Fryns JP; Vermeesch JR
J Med Genet; 2007 Apr; 44(4):250-6. PubMed ID: 17172463
[TBL] [Abstract][Full Text] [Related]
19. Case report of de novo dup(18p)/del(18q) and r(18) mosaicism.
Gereltzul E; Baba Y; Suda N; Shiga M; Inoue MS; Tsuji M; Shin I; Hirata Y; Ohyama K; Moriyama K
J Hum Genet; 2008; 53(10):941-946. PubMed ID: 18679767
[TBL] [Abstract][Full Text] [Related]
20. Autopsy findings of a 37-year-old man with a complex mosaic karyotype involving del(18p), monosomy 13, and trisomy 20.
Halushka MK; Stetten G; McMichael JL; Blakemore KJ; Hutchins GM
Am J Med Genet A; 2005 Jun; 135(2):181-5. PubMed ID: 15832358
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
