Supernumerary ring chromosome 20 in a mother and her child

American Journal of Medical Genetics

Volumn 133 A, Issue 2, 2005, Pages 193-196

  Pinto, M R ^a   Fonseca E Silva, M L ^a   Aguiar, J ^a   Quelhas, I ^b   Lima, M R ^a  

^a NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

^b Hospital Vale do Sousa   (Portugal)

Author keywords

Extra ring 20; Familial; FISH; Mosaicism

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 20; CHROMOSOME MOSAICISM; CLINICAL FEATURE; DISEASE SEVERITY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MALE; PRIORITY JOURNAL; SUPERNUMERARY CHROMOSOME;

ABNORMALITIES, MULTIPLE; ADULT; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 20; FACE; FEMALE; FOOT DEFORMITIES, CONGENITAL; HAND DEFORMITIES, CONGENITAL; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; KARYOTYPING; MALE; MOSAICISM; MOTHERS; RING CHROMOSOMES;

EID: 14044265666     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30532     Document Type: Article

References (14)

1. Austin-Ward ED, Castilho S, Draganic Y, Sanz P, Salazar S, Knoll JHM. 2000. Clinical findings in a patient mosaic for a supernumerary ring chromosome 20. Am J Med Genet 91:171-174.
2. Batista D, Escallon C, Blakemore K, Stetten G. 1995. An accessory marker derived from chromosome 20 and its co-existence with a mosaic trisomy 20 cell line. Prenat Diagn 15:123-127.
3. Blennow E, Anneren G, Bui TH, Berggren E, Asadi E, Nordenskjöld M. 1993. Characterization of supernumerary ring marker chromosomes by Fluorescence in situ hybridization (FISH). Am J Hum Genet 53:433-442.
4. Callen DF, Eyre HJ, Ringenbergs ML, Freemantle CJ, Woodroffe P, Haan EA. 1991. Chromosomal origin of small ring marker chromosomes in man: Characterization by molecular genetics. Am J Hum Genet 48:769-782.
5. Crolla JA, Long F, Rivera H, Dennis NR. 1998. FISH and molecular study of autosomal supernumerary marker chromosomes excluding those derived from chromosomes 15 and 22: I. Results of 26 new cases. Am J Med Genet 75:355-366.
6. Gardner RJM, Sutherland GR. 1996. Chromosome abnormalities and genetic counseling: Autosomal Rings. New York: Oxford University Press.
7. Grammatico P, Cupilari F, Di Rosa C, Falcolini M, Del Porto G. 1992. 20 p duplication as a result of parental translocation: Familial case report and a contribution to the clinical delineation of the syndrome. Clin Genet 41:285-289.
8. Herens C, Verloes A, Laloux F, Van Maldergem L. 1990. Trisomy 20q. A new case and further phenotypic delineation. Clin Genet 37:363-366.
9. Jenderney J, Caliebe A, Beyer C, Grote W. 1993. 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. J Med Genet 30:964-965.
10. Kosztolányi G, Méhes K, Hook E B. 1991. Inherited ring chromosomes: An analysis of published cases. Hum Genet 87:320-324.
11. Le Chien KA, Mc Pherson E, Estop AM. 1994. Duplication 20p identified via fluorescent in situ hybridization. Am J Med Genet 50:187-189.
12. Mears AJ, El-Shanti H, Murray JC, Mc Dermid HE, Pati LSR. 1995. Minute supernumerary ring chromosome 22 associated with cat eye syndrome: Further delineation of the critical region. Am J Hum Genet 57:667-673.
13. Van Langen IM, Otter MA, Aronson DC, Overweg-Plandsoen WCG, Hennekam RCM, Leschot NJ, Hoovers JMN. 1996. Supernumerary ring chromosome20, characterized by fluorescence in situ hybridization. Clin Genet 49:49-54.
14. Viersbach R, Engels H, Schwanitz G. 1997. Identification of supernumerary der (20) chromosomes by FISH in three patients. Am J Med Genet 70:278-283.