Small interstitial deletion of the long arm of chromosome 2 (2q24.3): further delineation of 2q medial monosomy syndrome.
Journal: The Japanese Journal Of Human Genetics
Published:
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.
Authors
Y Chinen, T Tohma, Y Izumikawa, T Iha, Y Goya, K Naritomi
Relevant Conditions