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Sarri C, Gyftodimou J, Avramopoulos D, Grigoriadou M, Pedersen W, Pandelia E, Pangalos C, Abazis D, Kitsos G, Vassilopoulos D, Brøndum-Nielsen K, Petersen MB.

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Monosomy for 21pter-q21: case report and assignment of a DNA clone (Fr8-77) to the deleted segment.

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Presumptive monosomy 21 with neuronal migration disorder re-diagnosed as de novo unbalanced translocation t(18p;21q) by fluorescence in situ hybridisation.

Alkan M, Ramelli GP, Hirsiger H, Keser I, Remonda L, Bühler EM, Moser H.

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Partial trisomy 2q(2q37.3-->qter) and monosomy 7q(7q34--->qter) due to paternal reciprocal translocation 2;7: a case report.

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Variant complex translocations involving chromosomes 1, 9, 9, 15 and 17 in acute promyelocytic leukemia without RAR alpha/PML gene fusion rearrangement.

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Primary ovarian failure in a mentally retarded woman with a de novo unbalanced X;autosome translocation.

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Prenatal findings and molecular cytogenetic analyses of partial trisomy 12q (12q24.32-->qter) and partial monosomy 21q (21q22.2-->qter).

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Translocation breakpoint mapping and sequence analysis in three monosomy 1p36 subjects with der(1)t(1;1)(p36;q44) suggest mechanisms for telomere capture in stabilizing de novo terminal rearrangements.

Ballif BC, Wakui K, Gajecka M, Shaffer LG.

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17:

Partial trisomy 13q22-->qter and monosomy 18q21-->qter as a result of familial translocation.

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Breakpoint mapping in a case of mosaicism with partial monosomy 9p23 --> pter and partial trisomy 1q41 --> qter suggests neo-telomere formation in stabilizing the deleted chromosome.

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Analysis of a familial three way translocation involving chromosomes 3q, 6q, and 15q by high resolution banding and fluorescent in situ hybridisation (FISH) shows two different unbalanced karyotypes in sibs.

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