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June 1965

Mental Retardation and Multiple Congenital Anomalies: Association With Extra Small Metacentric Chromosome

Author Affiliations

From the Departments of Pathology and Neurology, Harvard Medical School; the James Homer Wright Pathology and Joseph P. Kennedy, Jr. Memorial Laboratories; and the Neurology and Children's Services of the Massachusetts General Hospital. Clinical Associate in Pathology, Harvard Medical School and Assistant Pathologist, Massachusetts General Hospital (Dr. Taft); Assistant Professor of Neurology, Harvard Medical School and Neurologist and Pediatrician, Massachusetts General Hospital (Dr. Dodge); and Assistant Professor of Pathology, Harvard Medical School and Assistant Pathologist, Massachusetts General Hospital (Dr. Atkins).

Am J Dis Child. 1965;109(6):554-557. doi:10.1001/archpedi.1965.02090020556010

Introduction  AN EXTRA small metacentric chromosome associated with multiple congenital anomalies has been described by Frøland et al1 and Gustavson and coworkers.2 This report concerns a similar type of chromosomal abnormality found in a mentally retarded male infant with multiple congenital malformations.

Report of a Case  A 16-month-old male infant (MGH No. 119 65 15) was admitted for evaluation of developmental retardation. Pregnancy was normal, but labor was induced two weeks before the expected date of delivery. Delivery was without complications and the birth weight was 6 lb, 10 oz (3,006 gm). Three hours after birth, tachypnea, an expiratory grunt, and cyanosis of lips and extremities were noted. X-ray films of the chest were normal, and the patient improved during the next two days.Development was generally slow. He first held his head well at 11 months and sat alone at 15 months; at 16 months he