The 3p-syndrome results from deletion of a terminal segment of the short arm of one chromosome 3 (3p25βpter), and is characterized by multiple congenital anomalies and mental retardation. Due to its variable expression, it is assumed this disorder is a contiguous gene syndrome with an undefined numb
Gene for multiple exostoses (EXT2) maps to 11(p11.2p12) and is deleted in patients with a contiguous gene syndrome
β Scribed by Ligon, Azra H.; Potocki, Lorraine; Shaffer, Lisa G.; Stickens, Dominique; Evans, Glen A.
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 6 KB
- Volume
- 75
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19980217)75:5<538::aid-ajmg17>3.0.co;2-l
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An unbalanced 46,XY,der(2)del(2)(p11.2p13) inv(2)(p11.2q13) karyotype was found in a phenotypically abnormal child with a de novo interstitial deletion of band 2p12 associated with an inv(2)(p11.2q13) inherited from the father. The inv(2) is generally considered a benign familial variant without sig
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