<- Home <- Arhive <- Vol. 29, Issue 2, June 2021



Rom J Leg Med29(2)196-204(2021)
DOI:10.4323/rjlm.2021.196
© Romanian Society of Legal Medicine


DE NOVO APPARENTLY BALANCED TRANSLOCATION WITH A NOVEL ABNORMAL PHENOTYPE: REVIEW AND CASE PRESENTATION

C. C. Albu, A. Vasilache, I. A. Stanciu, I. Suciu, E. Teodorescu, A. O. Dragomirescu, S. D. Albu, E. S. Nada, D. F. Albu, E. Ionescu


Abstract: Orofacial clefts (OFC) are congenital malformations of great complexity, syndromic or non-syndromic, isolated or associated with other congenital anomalies, in whose etiology, the genetic factor plays a crucial role, genetic mutations and chromosomal abnormalities being undisputed etiological mechanisms involved in the appearance of OFC. We report the first case in the literature of de novo apparently balanced reciprocal chromosomal translocation t(7;16)(p14;p11.1) between two non-homologous autosomal chromosomes, phenotypically associated with unilateral cheilognathopalatoschisis and clubfoot. This new phenotypic association was successfully diagnosed prenatally in a fetus of 23 weeks, illustrating not only the undeniable role of cytogenetics in the early identification of fetal chromosomal abnormalities but also the accuracy of the ultrasonographic prenatal diagnosis as well as the need and the recommendation that classical cytogenetic investigations should be completed, as appropriate, with high-resolution genetic investigations in all cases in which de novo apparently balanced chromosomal rearrangements with abnormal phenotype are identified. Both regions we studied, 7p14 and 16p11.1, represent an important field for future research on the identification of new and potential genes and genetic disorders involved in the complex etiological spectrum of OFC.

Keywords: orofacial clefts, chromosomal translocation, cheilognathopalatoschisis, prenatal diagnosis, ultrasound examination, karyotype.



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