Silver-Russell syndrome: genetic basis and molecular genetic testing
نویسندگان
چکیده
منابع مشابه
Silver-Russell syndrome: genetic basis and molecular genetic testing
Imprinted genes with a parent-of-origin specific expression are involved in various aspects of growth that are rooted in the prenatal period. Therefore it is predictable that many of the so far known congenital imprinting disorders (IDs) are clinically characterised by growth disturbances. A noteable imprinting disorder is Silver-Russell syndrome (SRS), a congenital disease characterised by int...
متن کاملThe genetic aetiology of Silver-Russell syndrome.
Silver-Russell syndrome (SRS MIM180860) is a disorder characterised by intrauterine and/or postnatal growth restriction and typical facies. However, the clinical picture is extremely diverse due to numerous diagnostic features reflecting a heterogeneous genetic disorder. The mode of inheritance is variable with sporadic cases also being described. Maternal uniparental disomy (mUPD) of chromosom...
متن کاملSilver-Russell Syndrome - Part I: Clinical Characteristics and Genetic Background.
Silver-Russell syndrome (SRS) is a rare, clinically and genetically heterogeneous entity, caused by (epi)genetic alternations. It is characterized by prenatal and postnatal growth retardation, relative macrocephaly, the triangular face and body asymmetry. About 40-60% of cases are caused by hypomethylation of 11p.15.5 Imprinting Centre Region 1 (ICR1) on the paternal chromosome, and maternal un...
متن کاملThe spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria.
The Silver-Russell syndrome (SRS) is characterised by severe intrauterine growth retardation, with a preserved head circumference, leading to a lean body habitus and short stature. Facial dysmorphism and asymmetry are considered typical features of the syndrome, although the range of phenotypic variance is unknown. Fifty seven subjects varying in age from 0.84 to 35.01 years, in whom the diagno...
متن کاملThe clinical and molecular genetic study of 20 Silver Russell Syndrome cases
Methods 20 SRS cases diagnosed in Beijing Children’s Hospital from 2006 to 2011 were studied retrospectively for clinical manifestations, physical signs, laboratory examinations and respond of GH treatment. We compared with 3 different diagnostic criteria and used the methylationspecific multiplex ligation dependent probe amplification (MS-MLPA) method to detect the chromosome 11p15 imprinting ...
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ژورنال
عنوان ژورنال: Orphanet Journal of Rare Diseases
سال: 2010
ISSN: 1750-1172
DOI: 10.1186/1750-1172-5-19