Clinical features and computer-aided analysis of chromosome aberration in a case with incontinentia pigmenti.
Incontinentia pigmenti (IP) is an X-linked dominant disease, usually lethal to males. IP belongs to rare diseases involving skin pathological findings, together with neurological and ophthalmological disorders. We here report a two-year old girl with typical symptoms of the IP. A hitherto unreported feature is partial deletion of short arms of one of the chromosomes 15, found in the girl and in her mother. Using an automatic chromosome picture analyzer, a densitometric analysis of the aberration was carried out, in order to determine the break point and to compare the normal and deleted chromosomes.
D002869:Chromosome Aberrations / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002884:Chromosomes, Human, Pair 15; D003720:Densitometry; D003936:Diagnosis, Computer-Assisted; D005260:Female; D006801:Humans; D007184:Incontinentia Pigmenti / Q000235:genetics*; D007223:Infant; D007621:Karyotyping; D010859:Pigmentation Disorders / Q000235:genetics*