Two case reports of chromosomal abnormalities using Fluorescence In Situ Hybridization (FISH)

C Charalsawadi, U Jinorose, S Jaruratanasirikul, P Limprasert

Abstract

We present 2 cases of chromosomal abnormalities. The first patient was 47, XX, +del (18), (pter ®q12:). She had delayed development, bilateral club feet and minimal dysmorphic facies. The second case was prenatally diagnosed to paternal derived 46, XY, inv(Y) (p11.2q11.2), t(Y;15) (q12;p12). Physical examination revealed omphalocele, minimal dysmorphic facies and bilateral undescended testes. He had normal growth and development at two months. The karyotypes of both cases were verified by using Fluorescence In Situ Hybridization (FISH).

 Keywords

FISH; trisomy 18; translocation; t(Y;15)

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