A Partial Trisomy 2p(p21→pter) Derived from a Paternal t(2;4)(p21;q33) Karyotype

F Mahjoubi; N Zolfagary

doi:10.2478/v10034-010-0017-5

.blurhash-client-img { display: none !important; }

A Partial Trisomy 2p(p21→pter) Derived from a Paternal t(2;4)(p21;q33) Karyotype

Balkan Journal of Medical Genetics

Volume 13 (2010): Issue 1 (June 2010)

By: F Mahjoubi and N Zolfagary

Open Access

|Aug 2010

Abstract

We describe a 7-year-old boy with additional material on 4q whose karyotype was 46, XY, der(4) t(2;4)(p21: q33). The father's karyotype was 46, XY, t(2;4)(p21;q33) and the mother's was normal. These results indicate that the extra material on 4q in the patient originated from the father's chromosome 2p. The patient had dysmorphic facial features, prominent ears, long fingers, developmental delay, speech delay and suffered from seizures.

References

Cassidy SB, Heller RM, Chazen EM, Engel E. The chromosome 2 distal short arm trisomy syndrome. J Pediatr 1977; 91(6): 934-938.10.1016/S0022-3476(77)80893-7
Search in Google Scholar
Francke U, Jones KL. The 2p partial trisomy syndrome. Duplication of region 2p23 leads to 2pter in two members of a t(2;7) translocation kindred. Am J Dis Child. 1976; 130(11): 1244-1129.10.1001/archpedi.1976.02120120078014
Search in Google Scholar
Francke U. Clinical syndromes associated with partial duplications of chromosomes 2 and 3: dup(2p), dup(2q),dup(3p),dup(3q). Birth Defects Orig Artic Ser. 1978; 14(6C): 191-217.
Search in Google Scholar
Armendares S, Salamanca-Gómez F. Partial 2p trisomy (p21 leads to pter) in two siblings of a family with a 2p-:15q+ translocation: Clin Genet. 1978; 13(1): 17-24.10.1111/j.1399-0004.1978.tb04125.x
Search in Google Scholar
Zuñiga R, Torres de Caballero OM, Mondragon A. Direct duplication 2p14 to 2p23. Hum Genet. 1979; 48(2): 241-244.10.1007/BF00286910
Search in Google Scholar
Kishi K, Matsutani Y, Iwatsubo T, Nishimura K, Tonomura A. A case of partial trisomy 2p (region 2p21 to 2pter) derived from a maternal t(2;15)(p21;q26). Jinrui Idengaku Zasshi. 1980; 25(1): 47-53.10.1007/BF01876545
Search in Google Scholar
Nagano H, Kano Y, Kobuchi S, Kajitani T. A case of partial 2p trisomy with neuroblastoma. Jinrui Idengaku Zasshi. 1980; 25(1): 39-45.10.1007/BF01876544
Search in Google Scholar
Parruti G, Di Ilio C, Calabrese G, Stuppia L, Guanciali Franchi P, Aceto A, Palka G. A new case of partial 2p trisomy due to de novo interstitial duplication 2p21-22. Ann Genet. 1989; 32(1): 55-58.
Search in Google Scholar
Barch MJ, Knutsen T, Spurbeck JL: The AGT Cytogenetics Laboratory Manual. Philadelphia: Lippincott-Raven Publishers, 1997.
Search in Google Scholar
Pueschel SM, Scola PS, Mendoza T. Partial trisomy 2p. J Ment Defic Res. 1987; 31(Pt3): 293-298.10.1111/j.1365-2788.1987.tb01372.x
Search in Google Scholar
Al-Saffar M, Lemyre E, Koenekoop R, Duncan AM, Der Kaloustian VM. Phenotype of a patient with pure partial trisomy 2p(p23→pter). Am J Med Genet. 2000; 94(5): 428-432.10.1002/1096-8628(20001023)94:5<;428::AID-AJMG16>3.0.CO;2-M
Search in Google Scholar
Mégarbané A, Souraty N, Prieur M, Theophile D, Chédid P, Augé J, Vekemans M. Interstitial duplication of the short arm of chromosome 2: report of a new case and review. J Med Genet. 1997; 34(9): 783-786.10.1136/jmg.34.9.783
Search in Google Scholar
Aviram-Goldring A, Fritz B, Bartsch C, Steuber E, Daniely M, Lev D, Chaki R, Barkai G, Frydman M, Rehder H. Molecular cytogenetic studies in three patients with partial trisomy 2p, including CGH from paraffin-embedded tissue. Am J Med Genet. 2000; 91(1): 74-82.10.1002/(SICI)1096-8628(20000306)91:1<;74::AID-AJMG14>3.0.CO;2-O
Search in Google Scholar
Le Caignec C, Winer N, Boceno M, Delnatte C, Podevin G, Liet JM, Quere MP, Joubert M, Rival JM. Prenatal diagnosis of sacrococcygeal teratoma with constitutional partial monosomy 7q/trisomy 2p. Prenat Diagn. 2003; 23(12): 981-984.10.1002/pd.742
Search in Google Scholar
Chen CP, Liu FF, Jan SW, Lin SP, Lan CC. Prenatal diagnosis of partial monosomy 3p and partial trisomy 2p in a fetus associated with shortening of the long bones and a single umbilical artery. Prenat Diagn. 1996; 16(3): 270-275.10.1002/(SICI)1097-0223(199603)16:3<;270::AID-PD836>3.0.CO;2-0
Search in Google Scholar
Hahm GK, Barth RF, Schauer GM, Reiss R, Opitz JM. Trisomy 2p syndrome: a fetus with anencephaly and postaxial polydactyly. Am J Med Genet. 1999; 87(1): 45-48.10.1002/(SICI)1096-8628(19991105)87:1<;45::AID-AJMG9>3.0.CO;2-V
Search in Google Scholar
Lurie IW, Ilyina HG, Gurevich DB, Rumyantseva NV, Naumchik IV, Castellan C, Hoeller A, Schinzel A. Trisomy 2p: analysis of unusual phenotypic findings: Am J Med Genet. 1995; 55(2):229-236.10.1002/ajmg.1320550216
Search in Google Scholar
Taylor Clelland CL, Levy B, McKie JM, Duncan AM, Hirschhorn K, Bancroft C. Cloning and characterization of human PREB; a gene that maps to a genomic region associated with trisomy 2p syndrome. Mamm Genome. 2000; 11(8): 675-681.10.1007/s003350010142
Search in Google Scholar