Disorders

2q37 Microdeletion Syndrome

Synonym(s): Albright Hereditary Osteodystrophy-Like Syndrome, Brachydactyly-Mental Retardation Syndrome

Gene	Locus	Protein
HDAC4	2q37.3	Histone deacetylase 4

Laboratory	Test Method	Prenatal	Carrier *
PerkinElmer, Signature Genomic Laboratories - Spokane, WA, USA	• FISH-metaphase
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.