Deletion of the terminal segment of the long arm of chromosome 4 with aortic stenosis.
A dysmorphic Chinese baby girl was found to have deletion of the long arm of chromosome 4 (46XX, del[4] q33-->qter). A review of various case reports of deletion of the long arm of chromosome 4 is reported and the clinical features are identified and compared. The earlier reports on this condition were that of deletion of the terminal segment of the long arm with break point occurring at q31. Since 1981, cases of deletion with break point at q33 have been reported.
Ho
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NK
Department of Neonatal Medicine 1, Kandang Kerbau Hospital, Singapore.
Ng
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D000015:Abnormalities, Multiple / Q000235:genetics*; D001024:Aortic Valve Stenosis / Q000235:genetics*; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4; D005145:Face / Q000002:abnormalities; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D013577:Syndrome; D014034:Toes / Q000002:abnormalities