Array CGH detection of a novel cryptic deletion at 3q13 in a complex chromosome rearrangement

作者：Lopez Exposito Isabel^*; Juliana Ballesta Martinez Maria; Antonio Bafalliu Juan; Vera Carbonell Ascension; Domingo Jimenez Rosario; Lopez Gonzalez Vanesa; Fernandez Asuncion; Guillen Navarro Encarna

来源：Genomics, 2014, 103(4): 288-291.

DOI：10.1016/j.ygeno.2014.02.008

• Complex chromosome rearrangement
• Oligo array-CGH
• 3q13 deletion

Complex chromosome rearrangements (CCRs) are extremely rare in humans. About 20% of the apparently balanced CCRs have an abnormal phenotype and the degree of severity correlates with a higher number of breakpoints. Several studies using FISH and microarray technologies have shown that deletions in the breakpoints are common although duplications, insertions and inversions have also been detected. We report a patient with two simultaneous reciprocal translocations, t(3;4) and t(2;14;18), involving five chromosomes and six breakpoints. He showed dysmorphic features, preaxial polydactyly in the left hand, brachydactyly, postnatal growth retardation and developmental delay. The rearrangement was characterized by FISH analysis which detected an interstitial segment from chromosome 14 inserted in the derivative chromosome 2, and by whole genome array which revealed an interstitial deletion of approximately 4.5 Mb at the breakpoint site on chromosome 3. To our knowledge this microdeletion has not been previously reported and includes similar to 12 genes. The haploinsufficiency of one or several of these genes is likely to have contributed to the clinical phenotype of the patient.

• 出版日期2014-4