Partial trisomy 1q and monosomy 18q due to a de novo t(1;18)(q25;q23).
A two-year-old girl trisomic for the segment 1q25 leads to qter and partially monosomic for band 18q23 as a consequence of a de novo t(1;18)(q25;q23) is reported. Most of the proposita's clinical findings have been described in the 1qter trisomy and some others in the 18q monosomy. This observation is interpreted as additional evidence of epi-, iso-, and hypostatic interactions at the chromosomal level.
D000015:Abnormalities, Multiple / Q000235:genetics; D000782:Aneuploidy; D002675:Child, Preschool; D002900:Chromosomes, Human, 1-3 / Q000648:ultrastructure*; D002902:Chromosomes, Human, 16-18 / Q000648:ultrastructure*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D014314:Trisomy