1q41q42 microdeletion syndrome

1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease.

Intellectual disability

Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.

Total: 2

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PMID (PMCID)
24357076	FEMALE	Infant, Newborn
	Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures.
	Au PY, Argiropoulos B, Parboosingh JS, Micheil Innes A. Am J Med Genet A. 2014;164A(2):441-8.
	Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures.
24357076	FEMALE	Infant, Newborn
	Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures.
	Au PY, Argiropoulos B, Parboosingh JS, Micheil Innes A. Am J Med Genet A. 2014;164A(2):441-8.
	We propose that FBXO28 is a possible candidate causative gene contributing to the intellectual disability and seizure phenotype observed in 1q41q42 microdeletion syndrome.