THE PTERYGIUM-COLLI SYNDROME IN THE MALE. A CLINICAL, HISTOLOGICAL, AND CYTOGENETIC STUDY OF TWO CASES.

Abstract

In phenotypical females with gonadal dysgenesis most cases are chromatin negative, with a chromosome number of 45 and an XO sex chromosome constitution. This was the first chromosomal constitution to be described in Turner’s syndrome [9, 101. Some females with gonadal dysgenesis are chromatin positive. Chromosomal analyses in these cases have shown a variety of X-chromosome anomalies, including XOjXX mosaicism, isochromosomes and deletions of the X-chromosome, but a few of them have had a normal female karyotype [5, 17, 221. Women are occasionally seen who have P61.