A Report of A Case with Partial Trisomy 13q with 46, XY, Der(14) t(13; 14) (q13; p11.1), +13q13 Karyotype (Pages: 0-0)


Rahnama M *, Nasiri F , Manoochehry F , Razazian F , Mortezapour F , Mahjoubi F ,

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Objective: This has been shown that the trisomy of the distal part of chromosome 13 is related to different clinic findings than cases with classic trisomy 13. The different trisomic segments of the long arm of chromosome 13 have been reported which might be either translocated or inserted in different chromosomes. Our case was a baby boy and the first child of an unrelated family. He was born at term following a normal pregnancy. He referred to our clinic at the age of 4 months. He had postaxial polydactyly and syndactyly of the left hand. He was deaf and legally blind. He was generally presented with developmental delay, microcephaly, trinogocephaly, hypotelorism, and with feeding problem. Cytogenetic analysis carried out using Tripsin Giemsa G banding (GTG), the karyotype 46,XY,der(14)t(13;14) (q13p11.1)+13q13 was determined in our patient . His mother and father were investigated and found to have normal karyotypes. To our best knowledge, this is the first report of a case where the trisomic segment of chromosome 13 is translocated on to chromosome 14. Materials and Methods: lymphocyte cultures from the patients were set up in RPMI1640 supplemented with 20% FBS.high resolution chromosome banding was performed in all subject. Results: To our best knowledge, this is the first report of a case where the trisomic segment of chromosome 13 is translocated on to chromosome 14. Conclusion: Our case was a baby boy and the first child of an unrelated family. He was born at term following a normal pregnancy. He referred to our clinic at the age of 4 months. He had postaxial polydactyly and syndactyly of the left hand. He was deaf and legally blind.