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Genet Couns. 2005;16(1):59-63.

Distal trisomy 10q/partial monosomy 14q: an unusual clinical picture.

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  • 1Department Obstetrics and Gynecology, University Medical Centre Ljubljana, Ljubljana, Slovenia. lev.bregant@guest.arnes.si


A case of twin boy with partial trisomy for the distal part of the long arm of chromosome 10 (10q24-->qter) and a concomitant monosomy 14(q32-->qter) is reported. The chromosomal abnormalities resulted from a paternal balanced translocation involving chromosomes 10 and 14. An additional clinical feature was observed, viz. hypoplastic lungs. The proband's phenotype was compared to previously reported patients with partial trisomy 10q or 14q deletion.

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