Summary
A female infant aged 10 months with multiple congenital anomalies associated with a small metacentric extra chromosome is reported. The chromosomal studies with a modified Giemsa-stain technique suggests that the extrachromosome is a isochromosome for the short arm of chromosome 18.
Zusammenfassung
Ein weiblicher Säugling im Alter von 10 Monaten mit multiplen angeborenen Mißbildungen zeigte ein kleines metazentrisches Extrachromosom. Die Chromosomenuntersuchung mit einer modifizierten Giemsa-Färbung legt den Gedanken nahe, es könne sich um ein Isochromosom für den kurzen Arm von Chromosom 18 handeln.
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References
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This work was supported by the National Research Council (CNR).
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Tangheroni, W., Cao, A. & Furbetta, M. Multiple anomalies associated with an extra small metacentric chromosome: Modified Giemsa stain results. Hum Genet 18, 291–295 (1973). https://doi.org/10.1007/BF00291125
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DOI: https://doi.org/10.1007/BF00291125