Y. Chinen et al., SMALL INTERSTITIAL DELETION OF THE LONG ARM OF CHROMOSOME-2 (2Q24.3) - FURTHER DELINEATION OF 2Q MEDIAL MONOSOMY SYNDROME, JPN J HUM G, 41(3), 1996, pp. 323-328
We report on a female infant with an interstitial deletion involving 2
q24.3. She had multiple congenital anomalies similar to those in patie
nts with del(2)(q31q33) except for an occipital encephalocele. As a re
sult of comparison of clinical findings among interstitial 2q deletion
s, a distinct 2q medial monosomy syndrome may be delineable in associa
tion with a deletion of 2q31.