Chromosomal Abnormality in a Mongolism‐Like Syndrome1

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Abstract
Summary: The cytogenetical and clinical observations of a 4 year old girl with a mongolism‐like syndrome are reported. The patient showed a moderate mental and physical retardation. Some signs and symptoms considered characteristic of mongolism were present. Others, such as the dermal patterns of hands and feet, rather contradict this diagnosis. In addition the patient had a bilateral dislocation of the hips and unspecific signs of retinal degeneration. There were no signs of abnormal sexual development.Chromosome studies based on cell cultures derived from bone marrow and skin biopsies revealed a chromosome number of 46 and a consistent karyotype pattern which was interpreted as a combination of trisomy for chromosome no. 21 and mono‐somy for no. 16, or alternatively as a translocation between the short arms of 16/21. Typical sex chromatin was present in 50–60% of the interphase nuclei. Both parents had apparently normal karyotypes and were free from signs or symptoms of significant disease.This patient represents a new genetical disease entity and clinically a variant of the common trisomic type of mongolism.