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The 22q11.2 deletion syndrome: More answers but more questions

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REFERENCES 1. de la Chapelle A, Herva R, Koivisto M, Aula P. A deletion in chromosome 22 can cause DiGeorge syndrome. Hum Genet 1981;57:253-6. 2. Kelley RI, Zackai EH, Emanuel BS, Kistenmacher M, Greenberg F, Punnett HH. The association of the DiGeorge anomalad with partial monosomy of chromosome 22. J Pediatr 1982;101:197-200. 3. Scamble PJ. Engineering a broken heart. Nature 1999;401:335-7. 4. Shprintzen RJ. Velocardiofacial syndrome and DiGeorge sequence [letter]. J Med Genet 1994;31:423-4. 5. Burn J. Closing time for CATCH22. J Med Genet 1999;36:737-8. 6. Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Seidel H, et al. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet 1997;34:798-804. 7. Carlson C, Papolos D, Pandita RK,

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22q11.2 Deletion Syndrome
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THE JOURNAL OF PEDIATRICS EDITORIALS
VOLUME 137, NUMBER 2




The 22q11.2 deletion syndrome: More answers but
more questions
It has been nearly 20 years since de la been an explosion of clinical and molec- situ hybridization probes have in-
Chapelle et al1 in France and Finland ular knowledge about this relatively creased our capabilities to rapidly di-
and Kelley et al2 in Philadelphia first common chromosomal microdeletion agnose and care for affected children.
described the association of DiGeorge
syndrome with partial monosomy of See related articles, p. 158 VCFS Velocardiofacial syndrome
chromosome 22. Since then, there has and p. 247.
Recognition of the clinical significance
J Pediatr 2000;137:145-7. syndrome. Subsequent reports have of the syndrome has spurred basic sci-
Copyright © 2000 by Mosby, Inc. confirmed how expert clinical obser- ence interest in defining the critical
0022-3476/2000/$12.00 + 0 9/18/109024 vations combined with the wide avail- gene or genes that contribute to the
doi:10.1067/mpd.2000.109024 ability of commercial fluorescence in phenotypic spectrum.3

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22q11.2 deletion syndrome

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  • the 22q112 deletion syndrome more answers but mo
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