Focal segmental glomerulosclerosis and partial deletion of chromosome 6p: a case report.
Clin Nephrol
; 76(1): 64-7, 2011 Jul.
Article
em En
| MEDLINE
| ID: mdl-21722607
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 6
/
Glomerulosclerose Segmentar e Focal
/
Deleção Cromossômica
Tipo de estudo:
Diagnostic_studies
Limite:
Child
/
Female
/
Humans
Idioma:
En
Ano de publicação:
2011
Tipo de documento:
Article