Interstitial deletion of band q12 of chromosome 5.
A six-months-old girl is presented with psychomotor retardation and multiple congenital malformations. The karyotype done on peripheral blood lymphocytes and skin fibroblasts was found to be 46,XX del(5)( q11q13 ). The parents are consanguineous. Their karyotypes were normal. The genes for Arylsulphatase B and Hexosaminidase B are not located in band 5q12 .
D000015:Abnormalities, Multiple / Q000235:genetics*; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002905:Chromosomes, Human, 4-5; D003241:Consanguinity; D005260:Female; D005347:Fibroblasts / Q000648:ultrastructure; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008214:Lymphocytes / Q000648:ultrastructure; D011596:Psychomotor Disorders / Q000235:genetics