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Clin Genet. 1995 Sep;48(3):140-7.

Monosomy 21q: two cases of del(21q) and review of the literature.

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Laboratoire de Cytogénétique, CHU Poitiers, France.


We report on two cases of partial monosomy 21 and review cases with a partial or an apparently full monosomy 21. In situ hybridization and/or molecular studies appear to be necessary tools to study imbalance in such a small chromosome and to perform further genotype-phenotype correlations. The segregation mode in cases with a translocation is adjacent 1, adjacent 2, and 3:1 in about 1/4, 1/4 and 1/2 of the cases, respectively.

[Indexed for MEDLINE]

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