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December 1, 1972Journal of Medical GeneticsOpen Access

Pericentric enversion of chromosome no. 13 in a large family leading to duplication deficiency causing congenital malformations in three individuals.

Halla Hauksdóttir Skarphéðinn Halldórsson O Jensson Margareta Mikkelsen Alan McDermott

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Abstract

Few examples of pericentric inversion in human autosomes have been reported up to the present time. Three examples of such chromosome ab- normalities were connected with the D-group chromosomes according to Parrington and Edwards (1971), who were the first to describe a case that had many of the findings of Patau's syndrome and a

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Hauksdóttir et al. (1972) studied this question.

synapsesocial.com/papers/6a997304ed2a4d4507c72cd9 https://doi.org/10.1136/jmg.9.4.413

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