Summary
We report a girl with a de novo duplication of the distal part of the long arm of chromosome 3 and review the literature. Our patient had the facial characteristics and many other anomalies of the partial 3q duplication syndrome. As a hitherto undescribed symptom in partial 3q trisomy syndrome, she had microphthalmia. The karyotype of this girl was interpreted as an inverse duplication of the terminal portion of chromosome 3: 46,XX,inv dup (3)(pter-q28::q28–q25::q28-qter). Quantitative hybridisation studies with 3p and 3q probes gave a consistent 3∶2 ratio of the relative intensities of the q bands in relation to the p bands between patient and control. This confirmed the presence of a 3q duplication and delineated the location of D3S5 to 3q25–3q28.
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van Essen, A.J., Kok, K., van den Berg, A. et al. Partial 3q duplication syndrome and assignment of D3S5 to 3q25–3q28. Hum Genet 87, 151–154 (1991). https://doi.org/10.1007/BF00204171
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DOI: https://doi.org/10.1007/BF00204171