PRESUMPTIVE ISO-CHROMOSOMES FOR THE LONG ARM OF X IN MAN ANALYSIS OF FIVE FAMILIES. EUR 380.e
M. Fraccaro, D. Ikkos, K Kaijser, K. Klinger, Jan Lindsten, R Luft
The cytological study of five female individuals is indicative of the existence in man of iso-chromosomes for the long arm of the A' chromosome.Phcnotypically these subjects are characterized by primary amenorrhrea, short stature, elevated excretion of gonadotropins and low excretion of œstrogens in urine.Laparotomy revealed in two of them gonadal streaks.Analysis of dcrinatoglyphics showed patterns similar to those found in XO individuals.The five subjects are sex chromatin positive in buccal mucosa smears and in cultured cells, and drumsticks are found consistently in their neutrophils.The karyotypes of the five patients are consistent in their appearance : in all EUR 3 80.