A balanced de novo X/autosome translocation in a girl with manifestations of Lowe syndrome.
Am J Med Genet
; 23(3): 837-47, 1986 Mar.
Article
en En
| MEDLINE
| ID: mdl-3953680
ABSTRACT
The Oculo-cerebro-renal syndrome of Lowe is an X-linked recessive disorder characterised by mental and growth retardation, renal rickets with renal tubular acidosis, generalised aminoaciduria, hypotonia, cataracts, glaucoma and frontal bossing. Manifestations of this syndrome were seen in a girl with no family history of the disorder, but who was found to have a de novo balanced X/3 translocation, with a breakpoint at Xq25. She had also inherited a balanced 14/17 translocation from her father. It is postulated that the clinical picture may be the result of disruption of the X chromosome within the gene at the locus for Lowe syndrome, with non-random inactivation of the normal X, which may permit the expression of this X-linked recessive disorder in a girl.
Buscar en Google
Banco de datos:
MEDLINE
Asunto principal:
Defectos Congénitos del Transporte Tubular Renal
/
Translocación Genética
/
Cromosoma X
/
Cromosomas Humanos 1-3
/
Síndrome Oculocerebrorrenal
Límite:
Child
/
Female
/
Humans
Idioma:
En
Año:
1986
Tipo del documento:
Article