Molecular characterization of a ring X chromosome in a male with short stature.
Hum Genet
; 110(4): 322-6, 2002 Apr.
Article
en En
| MEDLINE
| ID: mdl-11941480
ABSTRACT
We report the molecular characterization of a ring X chromosome that was transmitted from a mother to a male who has short stature and minor dysmorphic features. This represents only the second reported ring X chromosome in a male. The ring is derived from breakage within the Xp pseudoautosomal region (PAR) and just proximal to the Xq PAR. The total amount of deleted material is 700-900 kb DNA and includes six known transcribed genes. Interestingly, SHOX, a gene implicated in short stature, is not deleted from the ring chromosome. Possible pathogenetic explanations for the patient's clinical features include insufficient dosage of deleted genes, a position effect on SHOX expression, and cell death during development because of ring chromosome nondisjunction. The findings are also relevant to observations made of "complete" ring chromosomes.
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Banco de datos:
MEDLINE
Asunto principal:
Cromosomas en Anillo
/
Cromosoma X
/
Estatura
Límite:
Child, preschool
/
Humans
/
Male
Idioma:
En
Revista:
Hum Genet
Año:
2002
Tipo del documento:
Article
País de afiliación:
Estados Unidos