Summary
A new case of familial heterozygous paracentric inversion in the long arm of chromosome 14 [inv(14)(q22q32)] is presented. The rearrangement was first ascertained in a fetus examined due to advanced maternal age, and then detected in the father. The phenotypes of the newborn and the father were completely normal. The parents had no history of spontaneous abortion. With reference to previous reports, the risk of clinical abnormalities are discussed for bothde novo and familial paracentric inversions of chromosome 14.
Similar content being viewed by others
Article PDF
References
Boue A, Gallano P (1984): A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses. Prenat Diag4: 45–67
Cox DW, Markovic VD, Teshima IE (1982): Genes for immunoglobulin heavy chains anda 1-antitrypsin are localized to specific regions of chromosome 14q. Nature297: 428–430
Daniel A, Ernest B, Hook B, Wulf G (1989): Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: Data from United States and Canadian laboratories. Am J Med Genet31: 14–53
Fryns JP, Van den Berghe H (1980): Paracentric inversion in man: Personal experience and review of the literature. Hum Genet54: 413–416
Groupe de Cytogeneticiens Francais (1986): Paracentric inversion in man. A French collaborative study. Ann Genet29: 129–176
Hales HA, Peterson CM, Carey J, Hecht BKM, Hecht F (1993): Prenatal detection ofde novo paracentric inversion 46,XX inv(14)(q22q32.1) in a normal child: report and review of the literature. Am J Med Genet47: 848–851
Hecht F, Hecht BK, Berger CS (1984): Aneuploidy in recurrent spontaneous aborters: the tendency to parental nondisjunction. Clin Genet26: 43–45
Jaeken J, Fryns JP, Standaert L, De Cock P, Van Den Berghe H (1980):De novo paracentric inversion in a microcephalic boy: 46,XY,INV(14)(q13q24). Ann Genet23: 105–107
Leung AKC, Hoo JJ (1986): A case of perineal hypospadias with paracentric inversion of chromosome 14. Eur J Pediatr144: 503–504
Madan K, Seabright M, Lindenbaum RH, Bobrow M (1984): Paracentric inversion in man. J Med Genet21: 407–412
Miller K, Raabe G, Schlesinger C, Schulze B (1990): Paracentric inversion 14. Ann Genet33: 225–227
Mules EH, Stamberg J (1984): Reproductive outcomes of paracentric inversion carriers: Report of a liveborn dicentric recombinant and literature review. Hum Genet67: 126–131
Ridler MAC, Sutton SD (1981): A case of paracentric inversion inv(7)(q11q22). Prenatal detection and counselling. Prenat Diag1: 81–84
Turczynowicz S, Sharma P, Smith A, Davidson AA (1992): Paracentric inversion of chromosome 14 plus rare 9p variant in a couple with habitual spontaneous abortion. Ann Genet35: 58–60
Uehara S, Akai Y, Takeyama Y, Takabayashi T, Okamura K, Yajima A (1992): Pericentric inversion of chromosome 9 in prenatal diagnosis and infertility. Tohoku J Exp Med166: 417–427
Uehara S, Tanigawara S, Takeyama Y, Okamura K, Yajima A (1994): A family with pericentric inversion of chromosome 12. Jpn J Human Genet39: 201–204
Warburton D (1991):De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. Am J Hum Genet49: 995–1013
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Uehara, S., Tanigawara, S., Takeyama, Y. et al. Paracentric inversion of chromosome 14: A case report. Jap J Human Genet 39, 353–356 (1994). https://doi.org/10.1007/BF01874054
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/BF01874054