Atypical Silver-Russell phenotype resulting from maternal uniparental disomy of chromosome 7.
Am J Med Genet A
; 152A(9): 2342-5, 2010 Sep.
Article
en En
| MEDLINE
| ID: mdl-20684011
ABSTRACT
We report on a patient with atypical Silver-Russell phenotype comprising severe growth retardation, unusual facies, bilateral Duane anomaly and infantile hypercalcemia caused by maternal uniparental iso/heterodisomy (mUPD) of chromosome 7. The development of myoclonus in this patient lends further support to the hypothesis that abnormal imprinting of the SGCE gene is responsible for some cases of myoclonus-dystonia syndrome. This case highlights the utility of SNP microarray technology as an accessible tool for the diagnosis of mUPD7 in atypical cases. We propose that depending on the balance of iso- and heterodisomic segments in a particular patient, mUPD7 may result in a range of phenotypes not confined to classic Silver-Russell syndrome.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Cromosomas Humanos Par 7
/
Disomía Uniparental
/
Síndrome de Silver-Russell
Tipo de estudio:
Diagnostic_studies
Límite:
Child
/
Female
/
Humans
Idioma:
En
Revista:
Am J Med Genet A
Asunto de la revista:
GENETICA MEDICA
Año:
2010
Tipo del documento:
Article
País de afiliación:
Australia