Abstract
A dysmorphic newborn male infant with multiple congenital anomalies was found to have a structurally abnormal karyotype of 46,XY,8p+. Parental chromosome studies revealed normal karyotypes. Application of high resolution banding studies (G and R) on extended chromosome preparations of this patient enabled us to identify this de novo unbalanced karyotype as 46,XY,-8,+der(8),t(8;4)(p23;q25). This indicates that the patient is trisomic for the distal segment of 4q (4q25 → 4qter) and possibly monosomic for the very tip of the short arm of #8.
Review of 16 reported cases of partial trisomy 4q resulting from various chromosome rearrangements showed that, in spite of different monosomic involvements in each case, a recognizable pattern of malformations, including characteristic facial features, leads to clinical identification of duplication syndrome of distal segment of 4q.
Identification of de novo chromosome rearrangement and recognition of specific duplication syndrome as a clinical entity in the newborn with multiple congenital anomalies will enable us to provide genetic counseling with appropriate anticipatory guidance to parents and better management and care for such patients.
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Kim, H., Perle, M., Vine, D. et al. DUPLICATION SYNDROME OF THE DISTAL SEGMENT OF 4q (4q25 → 4qter). Pediatr Res 18 (Suppl 4), 222 (1984). https://doi.org/10.1203/00006450-198404001-00777
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DOI: https://doi.org/10.1203/00006450-198404001-00777
