Silver-Russell syndrome and its genetic origins.

Abstract:

:Silver-Russell syndrome (SRS) is both clinically and genetically a heterogeneous congenital disorder. Patients are characterised by severe intrauterine and post-natal growth retardation, dysmorphic facial features and, asymmetry. Various chromosome abnormalities have been associated with the disease, involving most often chromosome 7 and 17. In about 7% of sporadic cases, maternal uniparental disomy of chromosome 7 has been detected. Most recent findings suggest that imprinting defects within the 11p15 region also play a role in SRS.

journal_name

J Endocrinol Invest

authors

Rossignol S

subject

Has Abstract

pub_date

2006-01-01 00:00:00

pages

9-10

issue

1 Suppl

eissn

0391-4097

issn

1720-8386

journal_volume

29

pub_type

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