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2005 | 46 | 3 |

Tytuł artykułu

Subfertile couple with t[4:22][q23:q11.2]

Warianty tytułu

Języki publikacji

EN

Abstrakty

EN
A couple was referred for cytogenetic examination due to idiopathic miscarriages. The proband proved to be a carrier of chromosomal translocation and her partner's karyotype was found to be normal. The karyotype of the proband is 46,XX,t(4;22)(q23;q11.2) and can be regarded as a reason of fertility problems in the investigated couple. The risk of further miscarriages is high, but the risk of a progeny with abnormal karyotype is rather low, as the progeny would probably have lethal imbalances.

Słowa kluczowe

Wydawca

-

Rocznik

Tom

46

Numer

3

Opis fizyczny

p.333-336,fig.,ref.

Twórcy

autor
  • The Medical Univeristy of Silesia, Jednosci 2, 41-208 Sosnowiec, Poland
autor

Bibliografia

  • Almeida de JC, Reis DF, Llerena Junior JC, 1991. Pure 4p trisomy due to a de novo 4q;22p dicentric translocated chromosome karyotype 46,XX,-22,+ t(4;22)(q1200;p13). Ann Genet 34: 108-110.
  • Barajas-Barajas LO, Valdez LL, Gonzalez JR, Garcia-Garcia C, Rivera H, Ramirez L, 2004. Sensorineural deafness in two infants: a novel feature in the 22q distal duplication syndrome. Cardinal signs in trisomies 22 subtypes. Genet Couns 15: 167-173.
  • Belin V, Farhat M, Monset-Couchard M, 1999. Intracytoplasmic sperm injection pregnancy with trisomy 20p and monosomy 22q in a newborn resulting from a balanced paternal translocation. Biol Neonate 75: 398-401.
  • Daniely M, Aviram-Goldring A, Barkai G, Goldman B, 1998. Detection of a chromosomal aberration in fetuses arising from recurrent spontaneous abortion by comparative genomic hybridization. Hum Reprod 13: 805-809.
  • Elghezal H, Sendi HS, Monastiri K, Lapierre JM, Romdhane SI, Mougou S, Saad A, 2004. Large duplication 4q25-q34 with mild clinical effect. Ann Genet 47: 419-422.
  • Gardner RJM, Sultherland GR, 2004. Chromosome abnormalities and genetic counselling. 3rd edn. Oxford University Press.
  • Greenberg F, Crowder WE, Paschall V, Colon-Linares J, Lubianski B, Ledbetter DH, 1984. Familial DiGeorge syndrome and associated partial monosomy of chromosome 22. Hum Genet 65: 317-319.
  • Mikelsaar RV, Lurie IW, Ilus TE, 1996. "Pure" partial trisomy 4q25-qter owing to a de novo 4;22 translocation. J Med Genet 33: 344-345.
  • Lin S, Kirk EP, McKenzie F, Francis C, Shalhoub C, Turner AM, 2004. De novo interstitial duplication 4(q28.1q35) associated with choanal atresia. J Paediatr Child Health 40: 401-403.
  • Lundin C, Zech L, Sjors K, Wadelius C, Anneren G, 2002. Trisomy 4q syndrome: presentation of a new case and review of the literature. Ann Genet 45: 53-57.
  • Rimoin D, Connor M, Korf B, Emery A, 2001. Emery and Rimoin's Principles and Practice of Medical Genetics. 4th edn. Churchill Livingstone.
  • Rivera H, Garcia-Esquivel L, Romo MG, Perez-Garcia G, Martinez Y Martinez R, 1988. The 22q distal trisomy syndrome in a recombinant child. Ann Genet 31: 47-49.
  • Rooney DE, 2001. Human cytogenetics: constitutional analysis. A practical approach. Oxford University Press.
  • Schroder K, Schuffenhauer S, Seidel H, Bartsch O, Blin N, Hinkel GK, Schmitt H, 1998. Deletion mapping by FISH with BACs in patients with partial monosomy 22ql3. Hum Genet 102: 557-561.
  • Silengo MC, Andria G, 1976. Partial monosomy 22 as the result of an unbalanced translocation 5: 22 in a patient with cri-du-chat syndrome. Hum Genet 34: 319-322.
  • Stoll C, Medeiros P, Pecheur H, Schnebelen A, 1997. De novo trisomy 22 due to an extra 22Q-chromosome. Ann Genet 40: 217-221.

Typ dokumentu

Bibliografia

Identyfikatory

Identyfikator YADDA

bwmeta1.element.agro-article-586970b6-500e-4d6f-8cd1-2db329d729cf
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