Partial tetrasomy with triplication of chromosome (5) (pl4-pl5.33) in a patient with severe multiple congenital anomalies

American Journal of Medical Genetics

Volumn 79, Issue 2, 1998, Pages 103-107

  Harrison, Karen J ^a   Teshima, Ikuko E ^a   Silver, Meredith M ^a   Jay, Venita ^b   Unger, Sheila ^a   Robinson, Wendy P ^a   James, Andrew ^b   Levin, Alex ^a   Chitayat, David ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

Brain abnormalities; Chromosome abnormality; Digital abnormalities; Eye abnormalities; Microcephaly; Renal abnormalities; Tetrasomy 5p; Triplication 5p

Indexed keywords

ARTICLE; BRAIN MALFORMATION; CASE REPORT; CHROMOSOME 5P; CLINICAL FEATURE; FINGER MALFORMATION; HUMAN; INFANT; KIDNEY MALFORMATION; MALFORMATION SYNDROME; MICROCEPHALY; PRIORITY JOURNAL; TETRASOMY;

ABNORMALITIES, MULTIPLE; BRAIN; CHROMOSOME ABERRATIONS; CHROMOSOME BANDING; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 5; CYTOGENETICS; EYE ABNORMALITIES; GENETIC MARKERS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN;

EID: 0032169814     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: None     Document Type: Article

References (24)

1. Baialardo EM, Felice MS, Rossi J, Barreiro C, Gallego MS (1996): Tandem triplication and quadriplication of chromosome 21 in childhood acute lymphoblastic leukemia. Cancer Genet Cytogenet 92:43-45.
2. Brimblecombe FSW, Lewis FJ, Vowles M (1977): "Complete 5p" trisomy: 1 case and 19 translocation carriers in 6 generations. J Med Genet 14: 271-274.
3. Carnevale A, Hernandez M, Limon-Toledo I, Frias S, Castillo J, Del Castillo V (1982): A clinical syndrome associated with dup(5p). Am J Med Genet 13:277-283.
4. Cassidy SB, Conroy J, Schwartz S (1996): A paternal intrachromosomal triplication in a hypotonie, developmentally delayed child without Prader-Willi or Angelman syndrome. Am J Med Genet 62:206-207.
5. Chance PF, Bird TD, Matsunami N, Lensch MW, Brothman AR, Feldman GM (1992): Trisomy 17p associated with Charcot-Marie-Tooth neuropathy type IA phenotype: Evidence for gene dosage as a mechanism in CMT1A. Neurology 42:2295-2299.
6. Chen H, Hoffman WH, Kusyk CJ, Tuck-Muller CM, Hoffman MG, Davis LS (1995): De novo dup (5p) in a patient with congenital hypoplasia of the adrenal gland. Am J Med Genet 55:489193.
7. Chia NL, Bousfield LR, Johnson BH (1987): A case report of a de novo tandem duplication (5pXpl4-pter). Clin Genet 31:65-69.
8. De Capoa A, Warburton D, Breg \VR, Miller DA, Miller OJ (1967): Translocation heterozygosis: A cause of five cases of the cri-du-chat syndrome and two cases with a duplication of chromosome number 5 in three families. Am J Hum Genet 19:586-603.
9. Dubé ID, cl-Solh II (1986): An apparent tandem quadruplication of chromosome 21 in a case of childhood acute lymphoblastic leukemia. Cancer Genet Cytogenet 23:253-256.
10. Engelen JJM, de Die-Smulders CEM, Fryns JP, Hoovers JMN, Abrechts JCM, Loots WJG, Jacobs ME, Hamers AJH (1994): Partial trisomy and monosomy 8p due to inversion duplication. Clin Genet 45:203-207.
11. Floridia G, Piantanida M, Minelli A, Dellavecchia C, Bonaglia C, Rossi E, Gimelli G, Croci G, Franchi F, Gilgenkrantz S, Grammatico P, Dalpra L, Wood S, Danesino C, Zuffardi O (1996): The same molecular mechanism at maternal meiotic meiosis I produces mono- and dicentric 8p duplications. Am J Hum Genet 58:785-796.
12. Francke U (1994): Digitized and differentially shaded human chromosome ideograms for genomic applications. Cytogenet Cell Genet 65: 206-219.
13. Guo W-J, Callif-Daley F, Zapata MC, Miller ME (1995): Clinical and cytogenetic findings in seven cases of inverted duplication of 8p with evidence of a telomeric deletion using fluorescence in situ hybridization. Am J Med Genet 58:230-236.
14. Hoo JJ, Chao M, Szego K, Rauer M, Echiverri SC, Harris C (1995): Four new cases of inverted terminal duplication: A modified hypothesis of mechanism of origin. Am J Med Genet 58:299-304.
15. Kleczkowska A, Fryns JP, Moerman Ph, Van den Berghe K, Van den Berghe H (1987): Trisomy of the short arm of chromosome 5: Autopsy data in a malformed newborn with inv dup (5)(pl3.1->p!5.3). Clin Genet 32:49-56.
16. Laurent C, Robert JM (1966): Etude génétique et clinique d'une famille de sept enfants dans laquelle trois sujets son atteints de la "malaide du cri-du-chat." Ann Genet 9:113-122.
17. Leichtman LG, Werner A, Bass \VT, Smith D, Brothman AR (1991): Apparent Opitz BBBG syndrome with a partial duplication of 5p. Am J Med Genêt 40:173-176.
18. Lejeune J, La Fourcade J, Berger R, Turpin R (1964): Ségrégation familiale d'une translocation 5-13 déterminant une monosomie et une trisomie partielles du bras court de chromosome 5: maladie du "cri-du-chat." C R Hebd Séances Aead Sei 258:5767-5770.
19. Noël B, Quack B, Thiriet M (1968): Ségrégation d'une translocation balance t(5p-;Gp+). Ann Genet 11:247-252.
20. Opitz JM, Pateau K (1975): A partial trisomy 5p syndrome. In Bergsma D (ed): "New Chromosomal and Malformation Syndromes." Miami, Florida: Symposia Specialist for the National Foundation-March of Dimes. Birth Defects 11(5):191-200.
21. Robinson WP, Dutly F, Nicholls RD, Bernasconi F, Penaherrera M, Michaelis RC, Abeliovich D, Schinzel AA (1998): The mechanisms involved in formation of deletions and duplications of 15qll-ql3. J Med Genet 35:130-136.
22. Schinzel AA, Brecevic L, Bernasconi F, Binkert F, Berthet F, Wuilloud A, Robinson WP (1994): Intrachromosomal triplication of 15qll-ql3. J Med Genet 31:798-803.
23. Zenger-Hain JL, Van Dyke DL, Wiktor A, Walker H, Feldman GL (1993): Inverted duplication of chromosome 5pl4pl5.3 confirmed with in situ hybridization. Am J Med Genet 47: 1198-1201.
24. Zhao J, Gordon PL, Wilroy RS, Martens PR, Tarleton J, Shulman LP, Simpson JL, Elias S, Tharapel AT (1995): Characterization of an unbalanced de novo rearrangement by microsatellite polymorphism typing and by fluorescent in situ hybridization. Am J Med Genet 56: 398402.