Rodríguez GH, Duquen LM, Jijon AM

Language: Spanish
References: 13
Page: 139-144
PDF size: 524.24 Kb.

ABSTRACT

The advance of investigations in the field of Molecular Biology applied to the study of genetic diseases has achieved to clarify its molecular bases and some transmission mechanisms different from the classical patterns of the Mendelian inheritance. Germinal mosaicism is one of those mechanisms, considered to be among the most frequent causes of genetic diseases. Two families in which the mutated achondroplasia gene and the Saethre-Chotzen syndrome are being segregated are presented. From the clinical information and the family tree prepared from the family history, Germinal Mosaicism was suspected to be the possible causal mechanism of these diseases. Thus, the present article constitutes one of the few reports in the international medical literature on achondroplasia and the first one on the Saethre-Chotzen syndrome. In general, the non-classic patterns of Mendelian inheritance must be considered to establish the risks of occurrence and recurrence of some diseases, in order to supply the proper genetic counselling to the families.

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