[18 short arm deletion. Report of one case (author's transl)].
A two month old boy with multiple malformations: mental retardation, microcephaly, hyperterloism, displasic ears, hypospadias, unilateral cryptorchidism and holoprosencephaly is presented. In leukocytes culture, patient shows a deletion of the short arm of a 18 chromosome. This aberration apears "de novo" in this patient.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male
Deleción de los brazos cortos de un cromosoma 18. Presentación de un caso