Dermatoglyphics and Reproductive Risk in a Family with Robertsonian Translocation 14q;21q.

Autor:	Kolgeci S; Obstetrics and Gynecology Clinic, University Clinical Centre of Kosova, Prishtina, Kosova., Kolgeci J; Pediatric Clinic, University Clinical Centre of Kosova, Prishtina, Kosova., Azemi M; Pediatric Clinic, University Clinical Centre of Kosova, Prishtina, Kosova., Daka A; Dermatovenerology Clinic, University Clinical Centre of Kosova, Prishtina, Kosova., Shala-Beqiraj R; Department of Histology and Embryology, University Clinical Centre of Kosova, Prishtina, Kosova., Kurtishi I; Faculty of Medicine, University of Prishtina, Prishtina, Kosova., Sopjani M; Faculty of Medicine, University of Prishtina, Prishtina, Kosova.
Jazyk:	angličtina
Zdroj:	Acta informatica medica : AIM : journal of the Society for Medical Informatics of Bosnia & Herzegovina : casopis Drustva za medicinsku informatiku BiH [Acta Inform Med] 2015 Jun; Vol. 23 (3), pp. 178-83. Date of Electronic Publication: 2015 May 25.
DOI:	10.5455/aim.2015.23.179-183
Abstrakt:	Aim: The present study is carried out to evaluate the risk of giving birth to children with Down syndrome in a family with Robertsonian translocation 14q;21q, and to find the dermatoglyphic changes present in carriers of this translocation. Methods: Cytogenetics diagnosis has been made according to Moorhead and Seabright method, while the analysis of prints (dermatoglyphics analysis) was made with the Cummins and Midlo method. Results: Cytogenetic diagnosis has been made in a couple who suffered the spontaneous miscarriages and children with Down syndrome. Robertsonian translocation between chromosomes 14 and 21 (45, XX, der (14; 21) (q10; q10)) was found in a female partner who had four pregnancies, in two of which was found fetus karyotype with trisomy in chromosome 21 and pregnancies were terminated. The outcome of fourth pregnancy was twin birth, one of them with normal karyotype and another with Down syndrome due to Robertsonian translocation inherited by mother side. Specific dermatoglyphics traits are found in the child carrying Down syndrome, whereas several traits of dermatoglyphics characteristic of Down syndrome have been displayed among the silent carriers of Robertsonian translocation 14q;21q. Conclusion: Robertsonian translocation found in female partner was the cause of spontaneous miscarriages, of giving birth to a child with Down syndrome, and of trisomy of chromosome 21 due to translocation in two pregnancies.
Databáze:	MEDLINE
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