Severe neonatal presentation of Kleefstra syndrome in a patient with hypoplastic left heart syndrome and 9q34.3 microdeletion

Background Kleefstra syndrome arises from haploinsufficiency of EHMT1 caused by either microdeletions at 9q34.3 or intragenic mutations. Patients with Kleefstra syndrome have multisystem involvement including intellectual disability, hypotonia, and characteristic facial features. Methods We report o...

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Veröffentlicht in:	Birth defects research. A Clinical and molecular teratology 2014-12, Vol.100 (12), p.985-990
Hauptverfasser:	Campbell, Candace L., Collins II, R. Thomas, Zarate, Yuri A.
Format:	Artikel
Sprache:	eng
Schlagworte:	9q34.3 microdeletion Adult chromosomal microarray Chromosome Deletion Chromosomes, Human, Pair 9 - genetics Comparative Genomic Hybridization Craniofacial Abnormalities - diagnosis Craniofacial Abnormalities - genetics Female Heart Defects, Congenital - diagnosis Heart Defects, Congenital - genetics Histone-Lysine N-Methyltransferase - genetics Humans hypoplastic left heart syndrome Hypoplastic Left Heart Syndrome - genetics Infant, Newborn Intellectual Disability - diagnosis Intellectual Disability - genetics Kleefstra syndrome Multicystic Dysplastic Kidney - diagnosis Multicystic Dysplastic Kidney - genetics multicystic renal disease Mutation - genetics Receptor, Notch1 - genetics Sequence Deletion Young Adult
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