Genetic Status : + 



y 



7 



(0) 



Normal gene 



Affected gene 



Heraizygous for X-linked trait 



At risk for autosomal trait, 



genetic status not determined 



Carrier for trait as determined 



by pedigree or clinical diagnosis 



The McKusick* number immediately following the name of the disease 

 will indicate the dominant, recessive, or X-linked nature of the 

 disease. The first digit is one for a dominant disease (e.g. 

 Huntington Chorea - 14310), two for a recessive disease (e.g. 

 Tay-Sachs Disease - 27280), and three for an X-linked trait (e.g. 

 Lesch Nyhan Syndrome - 30800). 



Verified : B if the defect was verified on the cell culture 

 before freezing, A if verified after recovery from liquid 

 nitrogen. Space left blank if verified on another cell culture 

 or tissues from the same patient or relative, if not verified 

 at all, or if verification is not yet possible because defect 

 is unknown or not yet expressed in culture. 



Paris Nomenclature : As described (Paris Conference 1971) and 

 Supplement (1975): Standardization in Human Cytogenetics. 

 Birth Defects: Original Article Series, VIII:7, 1972. The 

 National Foundation, New York. 



*McKusick, Victor. Mendelian Inheritance in Man 4th Edition. 

 John's Hopkins Press, Baltimore, London. 1975. 



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