Russell-Silver syndrome due to paternal H19/IGF2 hypomethylation in a patient conceived using intracytoplasmic sperm injection.
Reprod Biomed Online
; 20(6): 843-7, 2010 Jun.
Article
en En
| MEDLINE
| ID: mdl-20385510
ABSTRACT
Epigenetic alterations at several maternal loci have been associated with imprinting disorders in children conceived using assisted reproductive technologies. To date, epimutations at paternal loci have been observed in the spermatozoa of infertile men, but there is little evidence of paternal epimutations in babies conceived using assisted reproductive treatment. This is a report of a female infant with classic Russell-Silver Syndrome (RSS) who was conceived using intracytoplasmic injection of spermatozoa obtained from testicular aspiration. Methylation studies revealed hypomethylation of the paternally derived H19/IGF2 locus. As far as is known, this is the second assisted reproduction treatment-conceived patient with classic RSS and this epigenotype. This case provides further evidence that epimutations affecting paternal alleles might be associated with assisted reproductive treatment.
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Factor II del Crecimiento Similar a la Insulina
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Metilación de ADN
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Inyecciones de Esperma Intracitoplasmáticas
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ARN no Traducido
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Síndrome de Silver-Russell
Límite:
Female
/
Humans
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Male
Idioma:
En
Revista:
Reprod Biomed Online
Asunto de la revista:
MEDICINA REPRODUTIVA
Año:
2010
Tipo del documento:
Article
País de afiliación:
Australia