Yonsei Med J.  2015 Nov;56(6):1742-1744. 10.3349/ymj.2015.56.6.1742.

Clinical and Molecular Delineation of a Novel De Novo 4q28.3-31.21 Interstitial Deletion in a Patient with Developmental Delay

• Rim JH
• Kim SW
• Han SH
• Yoo J

• KMID: 2345909
• DOI: http://doi.org/10.3349/ymj.2015.56.6.1742

Abstract

No abstract available.

MeSH Terms

Child
Chromosome Banding
*Chromosome Deletion
Chromosomes, Human, Pair 4/*genetics
Comparative Genomic Hybridization
Developmental Disabilities/diagnosis/*genetics
Humans
Male
Sequence Deletion

Figure

• 

  Fig. 1 (A) The G-banded karyotype of the patient. Trypsin-Giemsa banded chromosome analysis at the 550-band level shows a pericentric inversion of chromosome 9 (arrow), which is considered as the normal variant commonly seen in normal population. Interestingly, microdeletion in the long arm of chromosome 4 was not noticed in the chromosome analysis. (B) The array-comparative genomic hybridization result of the patient. Deletion at the region from 4q28.3 to 4q31.21 is observed (red box). The size of deletion fragment was estimated to be 6 Mb (from 139151789 kb to 145163068 kb). (C) Comparison of deletion loci and sizes among three 4q deletion cases (present case, case of reference 7, and case of reference 8) within the region 4q28.3-31.23. There are 8 deleted genes within the region with possible effects on the phenotypes (i.e., PCDH18, SETD7, ELMOD2, IL15, GAB1, HHIP, SMAD1, and NR3C2). Considering the severities of three cases, PCDH18, SMAD1, and NR3C2 are suggested to be major contributors to severe phenotypes in the 4q deletion syndrome including cardiac and neurologic defects.

Reference

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