Partial trisomy 4 resulting from a complex maternal rearrangement of chromosomes 2, 4, and 18 with interstitial translocation.
A woman presented a complex chromosome rearrangement with translocation between chromosome 2 and 4 in addition to an insertion of the band 4q12 leads to q13 in the long arm of chromosome 18. The authors present a case study of the daughter who displayed the abnormal chromosome 18 and trisomy of band 4q12 leads to q13.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002871:Chromosome Banding; D002900:Chromosomes, Human, 1-3; D002902:Chromosomes, Human, 16-18; D002905:Chromosomes, Human, 4-5; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D007621:Karyotyping; D007805:Language Development Disorders / Q000235:genetics; D010375:Pedigree; D011596:Psychomotor Disorders / Q000235:genetics*; D014178:Translocation, Genetic; D014314:Trisomy