A de novo 11p13 Microduplication in a Patient with Some Features Invoking Silver-Russell Syndrome.

[aniridia]

Patients with Silver-Russell syndrome (SRS ) show an intrauterine and postnatal growth restriction associated with a variable spectrum of additional features . Genetic or epigenetic alterations on chromosomes 7 and 11 can be detected in several SRS patients ; however , a large fraction of cases remains with unknown genetic etiology . Here , we describe the clinical and molecular findings of a patient with a phenotype invoking SRS showing intrauterine and postnatal growth retardation , psychomotor retardation , relative macrocephaly , slightly triangular face with pointed chin , clinodactyly , and a slight body asymmetry , in whom single -nucleotide polymorphism oligonucleotide array analysis led to the identification of a de novo 11 p 13 duplication containing many genes that could be functionally related with the observed clinical features . Many deletions of chromosome 11 p 13 , resulting in WAGR (Wilms tumor , aniridia , genital anomalies , mental retardation ) syndrome , have been described , while only few duplications spanning the same region have been reported so far . To our knowledge , this is the first reported case presenting a SRS carrier of an 11 p 13 duplication . We propose candidate genes for the observed traits , and in particular , we discuss the possible role of the involvement of 2 noncoding RNAs in the etiology of the phenotype .

Diseases
Validation

Diseases presenting "aniridia" symptom

aniridia

kabuki syndrome

oculocutaneous albinism

This symptom has already been validated