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Deletion of the Distal Long Arm of Chromosome 1: An Analytical Approach May Contribute to the Diagnosis

The clinical findings in a female infant with a terminal deletion (1) (pter→q42.3:) are described and compared with 18 other cases displaying a similar chromosomal abnormality. bed on an analysis of the 19 cases, postnatal growth retardation, microcephalus, severe mental and motor retardation, muscle hypotonia, high‐pitched shrill cry, and hypoplasia of the external genitalia in males were almost invariably observed. The facial features appear to be insufficiently peculiar to a blink diagnosis, but analytical demonstration of round face, sparse hair, broad nose, smooth philtrum, prominent cupid's bow and downturned comers of the mouth may contribute to the diagnosis. The frequencies of convulsions and CNS anomalies, especially of agenesis of the corpus callosum were relatively high.