A case of complex structural rearrangement of chromosome 4 identified by R-banding as 46,XX,del(4),inv(4)(pter→16::q24→p16::q32→qter) is reported in an infant with congenital anomalies and psychomotor retardation.
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Golbus, M. S., Conte, F. A., Daentl, D. L.: Deletion from the long arm of chromosome 4 (46,XX,4q-) associated with congenital anomalies. J. Med. Genet. 10, 83–85 (1973)
Grouchy, J. de, Turleau, C.: Atlas des Maladies Chromosomiques. Paris: Expansion Scientifique 1977
Van Kempen, C.: A patient with congenital anomalies and a deletion of the long arm of chromosome 4 [46,XY, del(4)(q31)]. J. Med. Genet. 12, 204–207 (1975)
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Serville, F., Broustet, A. Pericentric inversion and partial monosomy 4q associated with congenital anomalies. Hum Genet 39, 239–242 (1977). https://doi.org/10.1007/BF00287019
- Internal Medicine
- Congenital Anomaly
- Metabolic Disease
- Structural Rearrangement
- Psychomotor Retardation