Biomedical subjects
Publications and source records attributed to M F Portnoi.
119 patients had sperm counts and caryotyping performed. Seven out of 33 azoospermic patients had a major caryotype abnormality of the gonosomes. Five out of 86 subjects who were not azoospermic had a persistent translocation and other moderate abnormalities in the sperm picture.
Ring Y chromosome 45,X/46,X,r(Y) was identified by fluorescence in a child with ambiguous external genitalia, urogenital sinus, vagina, uterus, and Fallopian tubes. Testicular tissue was noted on gonadal biopsy.
Four cases of balanced translocations with phenotype abnormalities are reported. Three of them are reciprocal translocation, one is a Robertsonnian translocation. The consequences of the phenomene on genetic counselling and prenatal diagnosis are discussed.