The proband was the first child of non-consanguineous parents. He has a younger, phenotypically normal sister. Birth weight was 1.9 kg and he had respiratory distress at birth. Psychomotor development was delayed. His height and weight were on the 3rd centile and his head circumference was below the 3rd centile. He started to walk at 2 1/2 years and could say a few words at 3 1/2 years. IQ was assessed to be around 75 to 80. The proband had microbrachycephaly, a flat occiput depressed supraorbital ridges, and flat nasal bridge. Palpebral fissures were narrow and upward slanting. There were prominent epicanthic folds, bilateral ptosis, and optic atrophy. The ears were large, prominent, and low set. He had flexion deformities and limitation of movement at the proximal interphalangeal joints of all the digits but mainly the second, third, and fourth fingers bilaterally. The fingers were short and spindle-shaped, thickened at the proximal interphalangeal joint and tapering distally. The middle phalanges were shortened and the distal digital creases were absent on the second and fourth fingers bilaterally. Bilateral talipes equinovarus had been corrected surgically at the age of 27 months. The child had a ventricular septal defect. His genitalia were normal. G, C, And Q banded chromosome preparations from peripheral blood lymphocyte cultures revealed a complex rearrangement between Y, 1, and 3. The chromosomes of the parents were normal. The proband's phenotypic abnormalities may have resulted from the loss of segment 3q23→q25. We are aware of only one repored case of partial monosomy 3q, involving the loss of 3q23→q24, and it is remarkable that the missing segment and the associated phenotypic abnormalities reported there are strikingly similar to the present case: prenatal growth retardation, developmental delay, mental retardation, microcephaly, blepharophimosis, malformed auricles, talipes, and absence of the distal interphalangeal joint creases on the fingers. It is possible that these features constitute a characteristic syndrome of deletion within the segment 3q22→q25, although position effect cannot be completely excluded. The blepharophimosis and digital abnormalities would appear to be the most characteristic features as, unlike the other features, they are not commonly encountered in other malformation syndromes. The involvement of the Y chromosome indicates that the translocation must have occurred either during spermatogenesis or in zygote during the first cleavage division.
