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We report five patients with a combination of brachymetaphalangia and mental retardation, similar to that observed in Albright hereditary osteodystrophy (AHO). Four patients had cytogenetically visible de novo deletions of chromosome 2q37. The fifth patient was cytogenetically normal and had normal bioactivity of the alpha subunit of Gs (Gs alpha), the protein that is defective in AHO. In this patient, we have used a combination of highly polymorphic molecular markers and FISH to demonstrate a microdeletion at 2q37. The common region of deletion overlap involves the most telomeric 2q marker, D2S125, and extends proximally for a maximum distance of 17.6 cM. We suggest this represents a consistent phenotype associated with some deletions at 2q37 and that genes important for skeletal and neurodevelopment lie within this region. Screening for deletions at this locus should be considered in individuals with brachymetaphalangia and mental retardation. Furthermore, 2q37 represents a candidate region for type E brachydactyly.

Type

Journal article

Journal

Am J Hum Genet

Publication Date

02/1995

Volume

56

Pages

400 - 407

Keywords

Abnormalities, Multiple, Adenylyl Cyclases, Adolescent, Adult, Base Sequence, Child, Chromosome Mapping, Chromosomes, Human, Pair 2, DNA, Satellite, Female, Fibrous Dysplasia, Polyostotic, Foot Deformities, Congenital, Genetic Markers, Hand Deformities, Congenital, Humans, In Situ Hybridization, Fluorescence, Intellectual Disability, Male, Molecular Sequence Data, Neck, Pedigree, Sequence Deletion