Interstitial deletion of the long arm of chromosome 8 without Langer-Giedion syndrome.
A case of interstitial deletion of the long arm of chromosome 8 is reported. A chromosome analysis by a high resolution banding revealed the abnormal karyotype, 46, XY, del (8) (q11.2q13). Although some reports describe an association of 8q deletion with the Langer-Giedion syndrome, this patient did not have the typical features of this syndrome. It was noted that the patient had amino aciduria, EEG and ECG abnormalities together with other pathological findings.
D000293:Adolescent; D000596:Amino Acids / Q000652:urine; D002869:Chromosome Aberrations / Q000175:diagnosis*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002898:Chromosomes, Human, Pair 8; D004562:Electrocardiography; D004569:Electroencephalography; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D013577:Syndrome
D000596:Amino Acids