ISSN: 1300-0292
İndekslendiği Dizinler: SCIENCE CITATION INDEX EXPANDED
CINAHL, Index Copernicus,
Chemical Abstracts (CA),
Excerpta Medica / EMBASE
Dil: Türkçe, İngilizce
İçerik: Orijinal Araştırma, Derleme, Editöre Mektup, Olgu Sunumu, Tıp Eğitimi, Tıbbi Kitap İncelemeleri
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Familial T(1;17)(p34;q25) Balanced Translocation Carrier With Mental Retardation And Epilepsy Cases: Scientific Letter
Dr. Sezgin Özgür GÜNEŞa Dr. Nurten KARAa Dr. Gülsen ÖKTENa Dr. Haydar Ali TAŞDEMİRb Dr. Özlem TÜRKELİ SEZERc Dr. Serbülent YİĞİTc Dr. Gönül OĞURb
aTibbi Biyoloji ABD, Tıbbi Genetik BD,
bÇocuk Sağlığı ve Hastalıkları ABD,
cTıbbi Genetik, Ondokuz Mayıs Üniversitesi Tıp Fakültesi, SAMSUN
Reciprocal translocations, the most frequent structural aberration in humans, are mainly transmitted by one of the parents. Balanced reciprocal translocations occur at a frequency of approximately 1 in 600 live births. Familial reciprocal translocations are generally without phenotypic effect, although there is some evidence for a small excess of mental retardation (MR) in children carrying familial reciprocal translocations. We describe three children presenting with moderate MR/epilepsy and a familial balanced reciprocal translocation inherited from the mother. Cytogenetic analysis of peripheral blood lymphocytes showed a balanced reciprocal translocation t(1;17)(p34;q25) in all 25 analyzed metaphase spreads. Some of the apparently balanced rearrangements associated with MR may be unbalanced at the molecular level. Further detailed molecular analysis is required to characterize these breakpoints.Keywords: Mental retardation; translocation, genetic; epilepsyTurkiye Klinikleri J Med Sci 2008, 28:83-86
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