Summary
A case of familial heterozygous pericentric inversion of chromosome 1 [inv(1)(p13q23)] is presented. The inversion was incidentally detected in a fetus whose mother received prenatal chromosomal diagnosis due to her age (40 years old), and thereafter the same inversion was detected in the father whose phenotype was normal. No abnormalities were found in the phenotype of the newborn carrier. Semen analysis of the father revealed normal findings. The couple had no history of spontaneous abortion.
Article PDF
References
Ayukawa H, Tsukahara M, Fukuda M, Kondoh O (1994): Recombinant chromosome 18 resulting from a maternal pericentric inversion. Am J Med Genet50: 323–325
Barros A, Tavares MC, Gomes MP, Tavares MP (1986): Familial inv(1)(p36.3q12) associated with sterility. J Med Genet23: 90–91
Batanian J, Hulten MA (1987): Electron microscopic investigations of synaptonemal complexes in an infertile human male carrier of a pericentric inversion inv(1)(p32q42). Hum Genet76: 81–89
Chandley AC, McBeath S, Speed RM, Yorston L, Hargreave TB (1987): Pericentric inversion in human chromosome 1 and risk for male sterility. J Med Genet24: 325–334
Char F, Chueng GK (1978): Familial pericentric inversion of chromosome 1 in a child with septooptic pituitary dwarfism and de novo pericentric inversion of chromosome 2. Birth Defects Orig Art Ser14/6C: 408–409
Crippa L, Ferrier S (1975): Etude cytogenetique d'un, cas de syndrome de Fanconi avec inversion pericentrique familiale. J Genet Hum23: 7–16
Gabriel-Robez O, Ratomponirina C, Rumpler Y, Le Marec B, Luciani JM, Guichaoua MR (1986): Synapsis and synaptic adjustment in an infertile human male heterozygous for a pericentric inversion in chromosome 1. Hum Genet72: 148–152
Giraldo A, Silva E, Martinez I, Campos C, Guzman J (1981): Pericentric inversion of chromosome 1 in three sterile brothers. Hum Genet58: 226–227
Guichaoua MR, Delafontaine D, Taurelle R, Taillemite JL, Morazzani MR, Luciani JM (1985): Loop formation and synaptic adjustment in a human male heterozygous for two pericentric inversions. Chromosoma93: 313–320
Howard-Peebles PN (1978): Familial pericentric inversion of chromosome 1 with a note on reproductive risks. Hum Genet45: 123–125
Johnson DD, Dobyns W, Gordon H, Dewald GW (1988): Familial pericentric and paracentric inversions of chromosome 1. Hum Genet79: 315–320
Lee CSN, Ying KL, Bowen P (1974): Position of the Duffy locus on chromosome 1 in relation to breakpoints for structural rearrangements. Am J Hum Genet26: 93–102
Lyberatou-Moraitou E, Grigori-Kostaraki P, Retzepopoulou Z, Kosmaidou-Aravidou Z (1983): Cytogenetics of recurrent abortions. Clin Genet23: 294–297
Martin RH (1991): Cytogenetic analysis of sperm from a man heterozygous for a pericentric inversion inv(3)(p25q21). Am J Hum Genet48: 856–861
Martin RH (1993): Analysis of sperm chromosome complements from a man heterozygous for a pericentric inversion, inv(8)(p23q22). Cytogenet Cell Genet62: 199–202
Martin RH, Chernos JE, Brian Lowry R, Anthony Pattinson H, Barclay L, Ko E (1994): Analysis of sperm, chromosome complements from a man heterozygous for a pericentric inversion of chromosome 1. Hum Genet93: 135–138
Miklos GLG (1974): Sex chromosome pairing and male fertility. Cytogenet Cell Genet13: 558–577
Phelan MC, Stevenson RE, Anderson EV Jr (1993): Recombinant chromosome 9 possibly derived from breakage and reunion of sister chromatids within a paracentric inversion loop. Am J Med Genet46: 304–308
Rivera H, Alvarez-Arratia MC, Moller M, Diaz M, Cantu JM (1984): Familial inv(1)(p3500q21.3) associated with azoospermia. Hum Genet66: 165–167
Stahl-Mauge C, Weiss-Wichert P, Propping P (1982): Familial pericentric inversion of chromosome 1 in a boy with Goldenhar's syndrome. Hum Genet61: 78
Toth A, Gaal M, Sara G, Laszla J (1982): Pericentric inversion of chromosome 1 in an azoospermic man. J Med Genet19: 303–305
Trunca O, Opitz JM (1977): Pericentric inversion of chromosome 14 and the risk of partial duplication of 14q(14q13–14qter). Am J Med Genet1: 217–228
Winsor EJT, Palmer CG, Ellis PM, Hunter JLP, Ferguson-Smith MA (1978): Meiotic analysis of a pericentric inversion, inv(7)(p22q32), in the father of a child with a duplication-deletion of chromosome 7. Cytogenet Cell Genet20: 169–184
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Uehara, S., Takabayashi, T., Takeyama, Y. et al. Familial pericentric inversion incidentally detected at prenatal diagnosis. Jap J Human Genet 40, 259–263 (1995). https://doi.org/10.1007/BF01876184
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/BF01876184