title: Long arm deletion of chromosome 13 with exclusion of esterase D from 13q32 leads to 13qter.
abstract: A de novo partial 13q monosomy is reported in a severely affected 8-year-old female with the karyotype 46,XX,del(13)(q32). Abnormal features included mental retardation, delayed development, microcephaly, encephalocele, hearing loss, hypertelorism, ptosis, flat nasal bridge, protruding upper incisors, facial asymmetry, short neck, hypoplastic thumbs, scoliosis and clubfeet. The deletion was demonstrable by R-banding but was not apparent by GTG banding. The locus for esterase D (EC 3.1.1.1) is excluded from the deleted segment 13q32 leads to 13qter.
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002901:Chromosomes, Human, 13-15; D003878:Dermatoglyphics; D004912:Erythrocytes / Q000201:enzymology; D004950:Esterases / Q000235:genetics*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics
chemical_list: D004950:Esterases