An extra idic(21)(q22.1) in a child with some features of Down's syndrome

Clinical Genetics

Volumn 55, Issue 3, 1999, Pages 203-206

  Gutierrez Angulo M ^a   Ramos, A L ^a   Davalos N ^a   Sanchez Corona J ^a   Rivera, H ^a,b  

^a INSTITUTO MEXICANO DEL SEGURO SOCIAL   (Mexico)

^b UNIVERSITY OF GUADALAJARA   (Mexico)

Author keywords

21q proximal tetrasomy; Down's syndrome; Karyotype phenotype correlation

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 21Q; DOWN SYNDROME; FINGER MALFORMATION; HUMAN; JOINT HYPERMOBILITY; KARYOTYPE; MALE; MENTAL DEFICIENCY; MOUTH MALFORMATION; MUSCLE HYPOTONIA; PHENOTYPE; PRIORITY JOURNAL; TETRASOMY;

ADULT; ANEUPLOIDY; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 21; DOWN SYNDROME; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE;

EID: 17144447473     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.1999.550309.x     Document Type: Article

References (14)

1. Daumer-Haas C, Schuffenhauer S, Walther JU, Schipper RD, Porstmann T, Korenberg JR. Tetrasomy 21pter → q22.1 and Down syndrome: molecular definition of the region. Am J Med Genet 1994: 53: 359-365.
2. Korenberg JR, Chen XN, Schipper R, Sun Z, Gonsky R, Gerwehr S, Carpenter N, Daumer C, Dignan P, Disteche C, Graham JM, Hugdins L, McGillivray B, Miyazaki K, Ogasawara N, Park JP, Pagon R, Pueschel S, Sack G, Say B, Schuffenhauer S, Soukup S, Yamanaka T. Down syndrome phenotypes: the consequences of chromosomal imbalance. Proc Natl Acad Sci USA 1994: 91: 4997-5001.
3. Rex AP, Preus M. A diagnostic index for Down syndrome. J Pediatr 1982: 100: 903-906.
4. Osoegawa K, Susukida R, Okano S, Kudoh J, Minoshima S, Shimizu N, De Jong PJ, Groet J, Ives J, Lehrach H, Nizetic D, Soeda E. An integrated map with cosmid/PAC contigs of a 4-Mb Down syndrome critical region. Genomics 1996: 32: 375-387.
5. Jabs EW, Stamberg J. Tetrasomy 21 in an infant with Down syndrome and congenital leukemia. Am J Med Genet 1982: 12: 91-95.
6. Nagarsheth NP, Mootabar H. Prenatal diagnosis of mosaic tetrasomy 21q confirmed by fluorescence in situ hibridization. Clin Genet 1997: 51: 260-263.
7. Slavotinek AM, Jackson A, Gaunt L, Donnai D. Tetrasomy 21 in a five month old male. Am J Hum Genet 1997: 61(Suppl): A140.
8. Sinet PM, Théophile D, Rahmani Z, Chettouh Z, Blouin JL, Prieur M, Noel B, Delabar JM. Molecular maping of the Down syndrome phenotype on chromosome 21. In: Epstein CJ, ed. The Phenotypic Mapping of Down Syndrome and Other Aneuploid Conditions. New York: Wiley-Liss, 1993: 63-86.
9. Bartsch O, Hinkel GK, Petersen MB, König U, Bugge M, Mikkelsen M, Avramopoulos D, Morris M, Antonarakis SE. A large family with subtelomeric translocation t(18;21)(q23;q22.1) and molecular breakpoint in the Down syndrome critical region. Hum Genet 1997: 100: 669-675.
10. Shapiro BL. Whither Down syndrome critical regions? Hum Genet 1997: 99: 421-423.
11. Schinzel A. Karyotype-phenotype correlations in autosomal chromosomal aberrations. In: Epstein CJ, ed. The Phenotypic Mapping of Down Syndrome and Other Aneuploid Conditions. New York: Wiley-Liss, 1993: 19-31.
12. Tyler-Smith C, Oakey RJ, Larin Z, Fisher RB, Crocker M, Affara NA, Ferguson-Smith MA, Muenke M, Zuffardi O, Jobling MA. Localization of DNA sequences required for human centromere function through an analysis of rear-ranged Y chromosomes. Nat Genet 1993: 5: 368-375.
13. Rivera H, Vasquez AI, Ayala-Madrigal ML, Ramirez-Dueñas ML, Dávalos IP. Alphoidless centromere of a familial unstable inverted Y chromosome. Ann Génét 1996: 39: 236-239.
14. Fisher AM, Al-Gazali L, Pramathan T, Quaife R, Cockwell AE, Barber JCK, Earnshaw WC, Axelman J, Migeon BR, Tyler-Smith C. Centromeric inactivation in a dicentric human Y;21 translocation chromosome. Chromosoma 1997: 106: 199-206.