Partial monosomy 13 as the result of a balanced translocation 3/13 pat.
In a 4 1/3-year old girl we found the karyotype 45, XX, del13(pter yields q12). The father showed a balanced translocation 3/13 (karyotype: 46,XY,t(3;13) (p27;q12). Psychological investigation of the patient revealed almost normal intelligence (DQ91). Clinical symptoms were: low birth weight, growth retardation, dolichocephalus, microgenia, antimongoloid slant of the eyes, edema on hands and feet, strabismus convergens, clubfoot (left), slight decrease in IgA and IgM.
D000782:Aneuploidy; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002900:Chromosomes, Human, 1-3; D002901:Chromosomes, Human, 13-15; D004487:Edema; D005260:Female; D006130:Growth Disorders; D006801:Humans; D007223:Infant; D007361:Intelligence Tests; D009129:Muscle Tonus; D010375:Pedigree; D010641:Phenotype; D014178:Translocation, Genetic