Small interstitial deletion of the long arm of chromosome 2 (2q24.3): Further delineation of 2q medial monosomy syndrome
- 1 September 1996
- journal article
- case report
- Published by Springer Nature in Journal of Human Genetics
- Vol. 41 (3) , 323-328
- https://doi.org/10.1007/bf01913175
Abstract
We report on a female infant with an interstitial deletion involving 2q24.3. She had multiple congenital anomalies similar to those in patients with del(2)(q31q33) except for an occipital encephalocele. As a result of comparison of clinical findings among interstitial 2q deletions, a distinct 2q medial monosomy syndrome may be delineable in association with a deletion of 2q31.Keywords
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