Duplication of the Wolf-Hirschhorn syndrome critical region causes neurodevelopmental delay.

[wolf-hirschhorn syndrome]

Wolf -Hirschhorn Syndrome (WHS ) is caused by deletions on chromosome 4 p and is clinically well defined . Genotype-phenotype correlations of patients with WHS point to a critical locus to be responsible for the main characteristics of this disorder . Submicroscopic duplications of this region , however , are not known . Here we report a patient with an interstitial 560 kb duplication overlapping this critical locus . The present case shows that not only deletions but also duplications of the Wolf -Hirshhorn critical region cause mental retardation and multiple congenital anomalies . Interestingly , the duplication phenotype overlaps partially with the deletion phenotype . However , his facial phenotype differs from the typical WHS gestalt .

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