title: Focal segmental glomerulosclerosis and partial deletion of chromosome 6p: a case report.
abstract: We treated a patient with 6p partial deletion syndrome diagnosed after proteinuria was detected during developmental examination 3 years after birth. External anomalies included ocular hypertelorism, saddle nose, elongated philtrum, tent-like lips, and low-set auricles. Mental retardation was evident. The karyotype was 46,XX,del(6) (p.22.1-p22.3) with an interstitial deletion. The kidneys showed no abnormality on imaging such as hydronephrosis, atrophy, or malformation. Examination of a renal biopsy specimen disclosed focal segmental glomerulosclerosis. No cardiac anomaly or Rieger anomaly, which often are present in this syndrome, were noted.
authors: Department of Pediatrics, Kinki University School of Medicine, Osaka, Japan.
authors: A
authors: A
authors: Izu
authors: H
authors: H
authors: Yanagida
authors: K
authors: K
authors: Sugimoto
authors: S
authors: S
authors: Fujita
authors: M
authors: M
authors: Okada
authors: T
authors: T
authors: Takemura
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D001706:Biopsy; D002648:Child; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D005260:Female; D005923:Glomerulosclerosis, Focal Segmental / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007668:Kidney / Q000000981:diagnostic imaging / Q000473:pathology; D011859:Radiography