Deletion of long arms of chromosome 13.
The case is presented of a girl with the banded karyotype 46,XX,del(13)(q22) and a phenotype of severe mental and growth deficiency, mongoloid slant of palpebral fissures, ptosis, hypertelorism, microcephaly, microstomia, micrognathia, nystagmus, gothic palate, uvula fissa, low-set malformed ears, short fingers, pedes excavati, dislocation of hips and diabetes insipidis.  Both parents have a normal phenotype and karyotype.
D000015:Abnormalities, Multiple / Q000235:genetics; D002869:Chromosome Aberrations; D002901:Chromosomes, Human, 13-15; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D010641:Phenotype