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