Small interstitial deletion of the long arm of chromosome 2 (2q24.3): further delineation of 2q medial monosomy syndrome.
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.
Chinen
Y
Y
Department of Pediatrics, University of the Ryukyus School of Medicine, Okinawa, Japan.
Tohma
T
T
Izumikawa
Y
Y
Iha
T
T
Goya
Y
Y
Naritomi
K
K
D000328:Adult; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D009006:Monosomy / Q000235:genetics*