Summary
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.
Similar content being viewed by others
Article PDF
References
Al-Awadi SA, Farag TI, Naguib K, Teebi A, Cuschieri A, Al-Othman S, Sundareshan T (1983): Interstitial deletion of the long arm of chromosome 2: del(2)(q31q33). J Med Genet20: 464–465
Antich J, Carbonell X, Clusellas N (1981):De novo interstitial deletion of the long arm of chromosome 2 in a malformed newborn karyotype: 46,XY,del(2)(q12q14). Clin Genet19: 489
Benson K, Gordon M, Wassman ER, Chung T (1986): Interstitial deletion of the long arm of chromosome 2 in a malformed infant with karyotype 46,XX,del(2)(q31q33). Am J Med Genet25: 405–411
Bernar J, Sparkes R, Allensworth S (1984): Interstitial deletion 2q24.3: case report with high resolution banding. J Med Genet22: 226–228
Boles RG, Pober BR, Gibson LH, Willis CR, McGrath J, Roberts DJ, Yang-Feng TL (1995): Deletion of chromosome 2q24-q31 causes characteristic digital anomalies: case report and review. Am J Med55: 155–160
Buchanan P, Rhodes RL, Stevenson CE (1983): Interstitial deletion 2q31-q33. Am J Med Genet15: 121–126
Fisher AM, Ellis KH, Browne CE, Barber JCK, Barker M, Kennedy CR, Foley H, Patton MA (1994): Small terminal deletions of the long arm of chromosome 2: two new cases. Am J Med Genet53: 366–369
Franceschini P, Silengo MC, Davi G, Biano R, Biagioli M (1983): Interstitial deletion of the long arm of chromosome 2 (q31q33) in a girl with multiple anomalies and mental retardation. Hum Genet64: 98
Fryns JP, Van Bosstraeten B, Malbrain H, Van den Berghe H (1977): Interstitial deletion of the long arm of chromosome 2 in a polymalformed newborn-karyotype: 46,XX,del(2)(q21;q24). Hum Genet39: 233–238
Glass IA, Swindlehurst CA, Aitken DA, McCrea W, Boyd E (1989): Interstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase. J Med Genet26: 127–140
Markovic S, Krstic M, Sulovic V, Radojkovic Z, Adzic S (1985): Interstitial deletion of chromosome 2. J. Med Genet22: 154–155
McConnell TS, Kornfeld M, McClellan G, Aase J (1980): Partial deletion of chromosome 2 mimicking a phenotype of trisomy 18: case report with autopsy. Hum Pathol11: 202–205
Moller M, GarcÃa-Cruz D, Rivera H, Sánchez-Corona J, Cantú JM (1984): Pure monosomy and trisomy 2q24.1→q3105 due to an inv ins(7;2)(q21.2;q3105q24.2) segregating in four generations. Hum Genet68: 77–86
Naritomi K (1996): University of the Ryukyus-Database for malformation syndromes, Ver. 3.1. Department of Pediatrics, University of the Ryukyus, Nishihara
Pai GS, Rogers JF, Sommer A (1983): Identical multiple congenital anomalies/Mental retardation (MCA/MR) syndrome due to del(2)(q32) in two sisters with intrachromosomal insertional translocation in their father. Am J Med Genet14: 189–195
Ramer JC, Ladda RL, Frankel CA, Beckford A (1989): A review of phenotype-karyotype correlations in individuals with interstitial deletions of the long arm of chromosome 2. Am J Med Genet32: 359–363
Shabtai F, Klar D, Halbrecht I (1982): Partial monosomy of chromosome 2. Delineable syndrome of deletion 2 (q23–q31). Ann Génét25: 156–158
Taysi K, Dengler DR, Jones LA, Heersma JR (1981): Interstitial deletion of the long arm of chromosome 2. Case report and review of literature. Ann Génét24: 245–247
Wamsler C, Muller B, Freyberger G, Schmid M (1991): Interstitial deletion del(2)(q24q31) with a phenotype similar to del(2)(q31q33). Am J Med Genet39: 204–206
Warter S, Lausecker C, Pennerath A (1976): Etude chromosomique et clinique d'une fillette porteuse d'une délétion (2)(q31q36). Hum Genet32: 225–227
Young RS, Shapiro SD, Hansen K, Hine RK, Rainosek D, Guerra FA (1983): Deletion 2q: two new cases with karyotypes 46,XY,del(2)(q31q33) and 46,XX,del(2)(q36). J Med Genet20: 199–202
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Chinen, Y., Tohma, T., Izumikawa, Y. et al. Small interstitial deletion of the long arm of chromosome 2 (2q24.3): Further delineation of 2q medial monosomy syndrome. Jap J Human Genet 41, 323–328 (1996). https://doi.org/10.1007/BF01913175
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/BF01913175