Individuals with double aneuploidy of Down-Turner syndrome are very rare and to date, fewer than 50 cases have been reported, worlwide. We report a case of a male infant who presented with dysmorphic features of upslanting eyes, flat nasal bridge, wide spaced nipples and macroglossia. Based on the clinical features, he was diagnosed with Down syndrome. His peripheral blood sample was taken and sent for cytogenetic analysis for confirmation. Chromosome analysis of his lymphocyte cell culture revealed a mosaic pattern of double aneuploidy with monosomy X identified in 31 metaphases and trisomy 21 in 14 metaphases: (45,X[31]/47,XY,+21[14]). Further analysis with fluorescence in situ hybridization (FISH) using Vysis LSI SRY Spectrum Orange/CEP X Spectrum Green Probe and Vysis CEP Y Spectrum Aqua Probe and Vysis LSI 21 Spectrum Orange Probe performed on the cells (nuclei and metaphases) has confirmed the presence of the abnormal two cell lines (81% monosomy X and 19% trisomy 21) in the patient. Ultrasound investigations of his pelvic region showed normal testes and no evidence of uterus, ovary or vagina. To the best of our knowledge, this is the first Down-Turner syndrome reported in Malaysia. In conclusion, this case demonstrates the importance of Giemsa-banded karyotype and FISH analyses as diagnostic tools in identifying the chromosomal abnormality and determining the ratio of the normal:abnormal cells present in the patient. An annotated bibliography of earlier reported cases of Down-Turner with documented karyotyping is also included in this report.
A Rare Case of a Male Infant with Down-Turner Syndrome and Review of Cases
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Abstrak
Individu dengan dua aneuploidi sindrom Down-Turner adalah amat jarang ditemui dan penemuan terkini menunjukkan kurang dari 50 kes dilaporkan dari seluruh dunia. Kami melaporkan satu kes bayi lelaki yang mempunyai ciri-ciri klinikal yang mempunyai keabnormalan pada mata, hidung, dada serta makroglosia. Berdasarkan dari ciri-ciri tersebut, beliau telah didiagnosis mengalami sindrom down. Sampel darah periferi beliau telah diambil dan dihantar untuk analisa kromosom bagi pengesahan. Analisa kromosom dari kultur sel limfosit beliau menunjukkan mosaik dengan dua jenis aneuploidi iaitu monosomi X dalam 31 metafasa dan trisomy 21 dalam 14 metafasa: (45,X[31]/47,XY,+21[14]). Analisa selanjutnya dengan Fluorescence In Situ Hybridisation (FISH) menggunakan Vysis LSI SRY Spectrum Orange/CEP X Spectrum Green Probe dan Vysis CEP Y Spectrum Aqua Probe, serta Vysis LSI 21 Spectrum Orange Probe ke atas sel-sel (interfasa dan metafasa) mengesahkan kehadiran dua jenis sel abnormal tersebut (81% adalah monosomi X, 19% trisomy 21) pada pesakit ini. Ultrabunyi pada bahagian pelvik pesakit menunjukkan testes yang normal dan tiada uterus, ovari dan vagina dikesan. Berdasarkan pengetahuan kami setakat ini, ini merupakan kes sindrom Down-Turner yang pertama dilaporkan di Malaysia. Kesimpulannya, kes ini menunjukkan kepentingan karyotip pewarnaan-Giemsa dan analisa FISH sebagai kaedah diagnostik bagi mengenal pasti keabnormalan kromosom serta mengetahui nisbah sel-sel normal:abnormal pada pesakit. Bibliografi anotasi beserta dengan karyotip bagi kes-kes sindrom Down-Turner yang telah dilaporkan sebelum ini disertakan dalam laporan ini.
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