Summary
A girl with growth and mental retardation, ventricular dilatation, hypoplastic brain, and other minor anomalies was found to have a 46,XX,t(3p−;18q+) karyotype. G-, Q-, and R-band analyses and measurements of chromosome length revealed a partial deletion del(3) (p13p21), in addition to the translocation. Her karyotype was 46,XX,del(3), t(3;18) (3qter→3p13∶∶18q23→18qter;18pter→18q23∶∶3p21→3pter) according to the Paris and Stockholm Conference nomenclature.
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Kogame, K., Kudo, H. Interstitial deletion 3p associated with t(3p−;18q+) translocation. Jap J Human Genet 24, 245–252 (1979). https://doi.org/10.1007/BF01907824
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DOI: https://doi.org/10.1007/BF01907824