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 "mental retardation" symptom

achondroplasia

alexander disease

alpha-thalassemia

aniridia

aromatase deficiency

canavan disease

classical phenylketonuria

coats disease

cohen syndrome

cowden syndrome

cystinuria

dentin dysplasia

familial hypocalciuric hypercalcemia

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

kabuki syndrome

kallmann syndrome

lamellar ichthyosis

lymphangioleiomyomatosis

monosomy 21

phenylketonuria

primary hyperoxaluria type 1

proteus syndrome

pyruvate dehydrogenase deficiency

sneddon syndrome

triple a syndrome

wolf-hirschhorn syndrome

zellweger syndrome

This symptom has already been validated