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.

Clinical features in a case with ring chromosome 13.

A 30-month-old boy with severe psychomotor retardation and numerous developmental anomalies, such as small trigonocephalic head, craniofacial anomalies, malformations of fingers with hypoplastic thumbs, anomalies of urogenital organs and imperforate anus, is presented. Cytogenetic studies of peripheral blood lymphocytes with differential staining of chromosomes revealed 46,XY,r13 karyotype. The correlation between clinical features and the observed chromosome aberration is discussed.

A new case of partial trisomy of 17 long arm. Densitometric analysis of aberrations.

Partial trisomy of the long arm of the chromosome 17 was found in a male infant with severe psychomotor retardation and numerous developmental anomalies. Differential staining with GTG, QFQ and CBG methods revealed an excess of genetic material on the short arm of chromosome 14, which was preliminarily identified as the distal part of chromosome 17q. Using an automatic picture analyser, chromosome break points were found in the 17q12 and 14p12 bands.

Polymorphism of the human Y chromosome: the evaluation of the correlation between the DNA content and the size of the heterochromatin and euchromatin.

The length of the Y chromosome with its fluorescent and non-fluorescent portion was measured in Q-banded metaphases. The same preparations were stained by Feulgen method. The DNA content and size of the Y chromosome were assessed.