Enlarged Chromosome No. 1 in a Patient with Primary Amenorrhoea

The paper relates the finding of an enlarged submetacentric chromosome No. i in a patient who suffered from ACTH dependent adrenocortical hyperfunction and primary amenorrhoea. The aberrant chromosome occurred also in the patient’s father and in a sexually normal twin sister. Three similar abnormal first chromosomes have been reported in the literature but they were connected with different clinical symptoms. For this reason, as well as the lack of any observable abnormality in the patient’s father and sister, it is uncertain whether a causal relation exists between the patient’s karyotype and her clinical symptoms.