A 46,XX,10Q+ chromosome constitution in a girl. Partial long arm duplication or insertional translocation?
A girl with slight psychomotor retardation, microphthalmia, and colobomata of the left eye, a hypotrophy of the right arm and a surnumerary digit on the right hand is described. The routine chromosome analysis and a G-banding analysis revealed an elongated long arm of chromosome 10. An extra light and dark band was present proximally. Both parents had normal chromosomes. While the visual comparison of the abnormal with the normal chromosome 10, did not enable the extra bands of the normal bands q21 and q22 to be distinguished. However, measurements of length, surface area, and relative reflection of the different light and dark bands of the long arm on tracings or directly on the normal and abnormal chromosomes, enabled us to precisely locate the extra bands and to determine that the abnormal chromosome was a result of an insertional translocation. The value of such measurements is discussed.
D001132:Arm / Q000002:abnormalities; D002869:Chromosome Aberrations; D002906:Chromosomes, Human, 6-12 and X; D003103:Coloboma / Q000235:genetics; D003878:Dermatoglyphics; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008850:Microphthalmos / Q000235:genetics; D014178:Translocation, Genetic