De novo interstitial duplication 4(q28.1q35) associated with choanal atresia

Journal of Paediatrics and Child Health
S LinA M Turner

Abstract

We report a case of direct interstitial duplication of chromosome 4 from 4q28.1 to 4q35 associated with bilateral choanal atresia. The child also had dysmorphic features including a broad nasal bridge, telecanthus, downward slanting palpebral fissures, prominent ears, mild bilateral clinodactyly of the 5th fingers and bilateral hypoplasia of the 2nd-5th toenails. There was also a slightly dilated renal collecting system. At the age of 2.5 years, he had moderate global developmental delay, short, wide and tapering fingers, and short toes with hypoplastic toenails. To our knowledge, this is the second report of choanal atresia in a patient with trisomy 4q involving this region.

References

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Citations

Apr 29, 2010·European Journal of Human Genetics : EJHG·Lucie ToscaGérard Tachdjian
Nov 26, 2010·European Journal of Medical Genetics·Ola A KhalifaA Verloes
Sep 10, 2010·European Journal of Medical Genetics·Odul EgritasThomas Liehr
Sep 19, 2009·American Journal of Medical Genetics. Part a·Jia-Chi WangMałgorzata J M Nowaczyk
Sep 12, 2012·American Journal of Medical Genetics. Part a·Judith MartinYing S Zou

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