PURPOSE: To evaluate the clinical, biochemical and cytogenetic analyses of a couple with reproductive failure. METHODS: A couple with a history of recurrent pregnancy loss was referred to the Institute of Genetics for cytogenetic evaluation. Chromosomal analysis of the phenotypically normal parents was done to ascertain the role of chromosomal abnormalities and offer appropriate genetic counseling. Further, advanced karyotype analysis by spectral karyotyping was also carried out in the couple and parents of the female partner. RESULTS: Clinical and hormonal profile of the couple revealed normal phenotypes. The ultrasound scan of the female showed normal uterus and ovaries. Chromosomal analysis of the couple revealed a normal 46, XY karyotype in the male spouse, and a unique balanced reciprocal translocation 46, XX, t(12;13) (q13;q33) + 15pstk+ chromosomal constitution in the female partner. Cytogenetic analysis of her parents revealed a similar translocation between chromosomes 12 and 13 in the father and 15pstk+ in the mother. Further, corroboration of the chromosome abnormalities was carried out by spectral karyotyping. CONCLUSION: A unique and novel familial transmission of paternally derived balanced reciprocal translocation and maternally derived heteromorphism in a female with the history of recurrent pregnancy loss was reported as an original investigation.
PURPOSE: To evaluate the clinical, biochemical and cytogenetic analyses of a couple with reproductive failure. METHODS: A couple with a history of recurrent pregnancy loss was referred to the Institute of Genetics for cytogenetic evaluation. Chromosomal analysis of the phenotypically normal parents was done to ascertain the role of chromosomal abnormalities and offer appropriate genetic counseling. Further, advanced karyotype analysis by spectral karyotyping was also carried out in the couple and parents of the female partner. RESULTS: Clinical and hormonal profile of the couple revealed normal phenotypes. The ultrasound scan of the female showed normal uterus and ovaries. Chromosomal analysis of the couple revealed a normal 46, XY karyotype in the male spouse, and a unique balanced reciprocal translocation 46, XX, t(12;13) (q13;q33) + 15pstk+ chromosomal constitution in the female partner. Cytogenetic analysis of her parents revealed a similar translocation between chromosomes 12 and 13 in the father and 15pstk+ in the mother. Further, corroboration of the chromosome abnormalities was carried out by spectral karyotyping. CONCLUSION: A unique and novel familial transmission of paternally derived balanced reciprocal translocation and maternally derived heteromorphism in a female with the history of recurrent pregnancy loss was reported as an original investigation.
Authors: E Schröck; S du Manoir; T Veldman; B Schoell; J Wienberg; M A Ferguson-Smith; Y Ning; D H Ledbetter; I Bar-Am; D Soenksen; Y Garini; T Ried Journal: Science Date: 1996-07-26 Impact factor: 47.728
Authors: G Del Porto; E D'Alessandro; P Grammatico; I M Coghi; S DeSanctis; M Giambenedetti; C Vaccarella; R Fabi; M F Marcaino; M Nicotra Journal: Hum Reprod Date: 1993-05 Impact factor: 6.918
Authors: Amy E Sullivan; Robert M Silver; D Yvette LaCoursiere; T Flint Porter; D Ware Branch Journal: Obstet Gynecol Date: 2004-10 Impact factor: 7.661
Authors: M De Gregori; R Ciccone; P Magini; T Pramparo; S Gimelli; J Messa; F Novara; A Vetro; E Rossi; P Maraschio; M C Bonaglia; C Anichini; G B Ferrero; M Silengo; E Fazzi; A Zatterale; R Fischetto; C Previderé; S Belli; A Turci; G Calabrese; F Bernardi; E Meneghelli; M Riegel; M Rocchi; S Guerneri; F Lalatta; L Zelante; C Romano; M Fichera; T Mattina; G Arrigo; M Zollino; S Giglio; F Lonardo; A Bonfante; A Ferlini; F Cifuentes; H Van Esch; L Backx; A Schinzel; J R Vermeesch; O Zuffardi Journal: J Med Genet Date: 2007-08-31 Impact factor: 6.318