TITLE

UN CASO DE SIRENOMELIA CON CARIOTIPO ISOCROMOSOMA 18q EN MOSAICO

AUTHOR(S)
Estay, F. Andrés; Benítez, C. Hugo; Parra, L. Roxana
PUB. DATE
August 2008
SOURCE
Revista Chilena de Obstetricia y Ginecología;2008, Vol. 73 Issue 4, p268
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
ABSTRACT
Sirenomelia is a very rare pathology, being its incidence approximately of 1 each 60,000 live born, in that the inferior members are fused. The upheaval in the development of axil caudal blastema would be in the third week and probably due to an alteration of the vascular development. They are frequent associated cardiovascular, gastrointestinals, and respiratory malformations and alterations of the neural tube. A case of sirenomelia in a patient of 23 years old is reported, with antecedent of epilepsy in phenitoyn treatment during two years. In the echographic pursuit the malformation was determined as sirenomelia type VII with presence of bilateral poliquistic kidney, congenital cardiopathy, mielomeningocele, and severe oligoamnios. The infant die at born. Kariotype displayed a mosaic of three cellular lines: 46,XX,i(18)(q10)[9]/46,XX,-18,+mar[12]/46,XX[4]. An association established between the use of the anticonvulsivant therapy and the risk of congenital malformations exists. Nevertheless, literature does not establish an association between this type of drugs and chromosomic alterations, not being able to establish a causal relation. It is important, even so, to report the coexistence of this alteration and the sirenomelic phenotype.
ACCESSION #
36626696

 

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