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Biomedical subjects

A Giraldo

Publications and source records attributed to A Giraldo.

4 recordsLinked to original sources

Birth defects among children born to a population occupationally exposed to pesticides in Colombia.

A case-referent study of birth defects was nested in a prevalence survey of adverse reproductive outcomes carried out among 8867 floriculture workers in Bogotá, Colombia. A total of 535 children born to these workers and reported by their parents as malformed and 1070 children selected at random as referents were invited to a medical examination including consultation with a geneticist and a clinical teratologist and a review of the medical records. Seventy-six percent of both groups attended the examination. Of 403 children reported as malformed, a birth defect was confirmed for only 154 (38%). On the other hand, of the 817 children reported as normal, 735 (90%) were normal, but 68 had a birth defect and 14 had other conditions. A case-referent analysis was then carried out including 222 children with birth defects and 443 referents. An increased risk was found only for birthmarks, and specifically for hemangiomas, for children with parents exposed to pesticides in the floriculture industry.

Abnormalities, Drug-Induced

Yq deletion, aspermia, and short stature.

A large Yq deletion involving both the fluorescent and part of the non-fluorescent segment in a 36-year-old phenotypic normal male is presented. His short stature and aspermia gives strong support, after a complete review of the literature, to the existence of factors involved in the control of both characteristics in the non-fluorescent segment of the long arm of chromosome Y, distally within band 11.

Adult

Partial trisomy 4q.

Three new cases (one patient and two sibs) of partial trisomy 4q resulting from a parental translocation are reported. From the literature 22 cases are reviewed and the segregation risk of unbalanced and balanced translocations involving 4q chromosome is discussed.

Chromosome Aberrations

Trisomy iop.

A stillborn male fetus having a trisomy of the short arm of chromosome No 10 is described. The father is a carrier of the reciprocal translocation 46XY,t(10;21) (10pter leads to 10p11::21p11 leads to 21qter). The clinical picture included growth retardation, bilateral cleft lip and palate, micrognathia, short neck, microphalus and bilateral clubbed feet. The long bones were markedly thinned with spontaneous fractures. Autopsy findings included pulmonary hypoplasia and renal dysplasia. Previous reports of trisomy 10 and trisomy of the short arm of chromosome 10 are discussed.

Abnormalities, Multiple