Martínez-Motta JC, Hernández-Vega LS, Cázarez-Ortíz M

Language: Spanish
References: 10
Page: 184-187
PDF size: 504.50 Kb.

ABSTRACT

Trisomy 22 is an infrequent syndrome, characterized by a small, extra, marker chromosome belonging to the G group. The similarity of it’s clinical characteristics with the characteristics of other syndromes could explain the overdiagnosis rate. Clinical case. This premature female patient was studied because of the finding of a bilateral hydrothorax in uterus. As well as others the findings included coloboma of iris and retina, anal atresia with rectovaginal fistula, double right renal artery, hypoplasic gall bladder and extrahepatic bile ducts atresia. The patient’s death was secondary to pulmonary hypoplasia, prematurity and multiorgan failure. The karyotype showed trisomy 22. Discusion. The congenital hydrothorax was identified as secondary fetal hydrothorax without a non-immune hydrops fetalis. When trisomy 22 is combined with anal atresia and coloboma of the iris it is considered a variant of the cat-eye syndrome. The approach in these cases is difficult. Discarding chromosomal anomalies and associated malformations, treatment will depend on gestational age at the moment of diagnosis, evidence of progression or regression of effusion, and development of hydrops.

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