A very rare case of trisomy 4q32.3-4q35.2 and trisomy 21q11.2-21q22.11 in a patient with recombinant chromosomes 4 and 21

Gene
Li-Sha ChenDong-Hua Cao

Abstract

We report the case of a patient with a clinical phenotype consistent with Down Syndrome (DS) who has a novel karyotypic abnormality. Karyotypic analyses were performed to investigate the cause of two spontaneous abortions. A balanced translocation between chromosomes 4 and 21 was identified, along with an additional abnormal chromosome 21. We performed high-resolution banding, comparative genomic hybridization (CGH), and FISH studies in both the patient and her mother to define the abnormality and determine its origin. CGH revealed a gain in copy number on the long arm of chromosome 4, spanning at least 24.4 Mb, and a gain in copy number on the long arm of chromosome 21, spanning at least 16.2 Mb. FISH analysis using a chromosome 21 centromere probe and chromosome 4 long arm telomere (4pter) probe confirmed the origin of the marker chromosome. It has been confirmed by the State Key Laboratory of Medical Genetics of China that this is the first reported instance of the karyotype 47,XX,t(4;21)(q31.3;q11.2),+der(21)t(4;21)mat reported in the world.

References

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May 8, 1999·American Journal of Medical Genetics·E L MaltbyC P Bennett
Jul 18, 2002·Annales de génétique·Catarina LundinGöran Annerén
Dec 8, 2004·Annales de génétique·Hatem ElghezalAli Saad
Mar 11, 2005·American Journal of Medical Genetics. Part a·A BattagliaC Disteche
Jul 15, 2009·Proceedings of the National Academy of Sciences of the United States of America·Jan O KorbelJulie R Korenberg
Jul 10, 2012·Gene·Eugen-Matthias StrehleTaosheng Huang

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