Gene: [02q37/BDMR] brachydactyly-mental retardation syndrome; Albright hereditary osteodystrophy, type 3; brachydactyly, type E (MIM:113300);
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COM |
Wilson-1995 found a cytogenetically visible de novo deletion of 2q37 in 4 patients in whom brachydactyly type E was combined with mental retardation to produce a picture simulating Albright hereditary osteodystrophy. A fifth patient, who was cytogenetically normal, was found to have a microdeletion at 2q37. It is likely that these patients suffered from a contiguous gene syndrome involving the locus for brachydactyly type E and one or more other loci." |
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PAT |
In type E brachydactyly, shortening of the fingers is mainly in the metacarpals and metatarsals. Wide variability in the number of digits affected occurs from person to person, even in the same family. The patients are moderately short of stature and have round facies but do not have ectopic calcification (or ossification), mental retardation or cataract." |
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REL |
GEM:12q24/BDC. |
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REF |
ABR,LOC "Phelan MC &: Am J Med Genet, 58, 1-7, 1995 ABR,LOC "Wilson LC &: AJHG, 56, 400-407, 1995 |
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KEY |
bone, neu, devd |
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CLA |
unknown, basic |
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LOC |
02 q37 |
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MIM |
MIM: 600430 |
