Format

Send to

Choose Destination
Mol Cytogenet. 2017 Oct 25;10:38. doi: 10.1186/s13039-017-0339-z. eCollection 2017.

Molecular characterization and evaluation of complex rearrangements in a case of ring chromosome 15.

Author information

1
FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, 380009 India.
2
Ankur Institute of Child Health, Ashram Road, Ahmedabad, 380009 India.
3
Institute of Human Genetics, Am Klinikum 1, 07747 Jena, Germany.

Abstract

BACKGROUND:

Ring chromosome 15 is a rare genetic entity. Only a few cases have been reported with characterization using molecular techniques. The clinical presentation is quite variable, as a result of differences in the breakpoints, haploinsufficiency of genes involved in deleted segment/s, level of mosaicism and ring instability resulting in a variability of rearrangement of genetic material.

CASE PRESENTATION:

The proband, a 2 months old boy, presented with small head size and facial dysmorphism. On examination microcephaly, triangular face, small anterior frontanelle, micrognathia, hypotonia, unilateral simian crease, hypertelorism, umbilical hernia, micropenis with mild phimosis were noted. Karyotype revealed 46,XY,r(15)(p11.2q26). Array-comparative genomic hybridization (aCGH) and targeted gene sequencing for microcephaly was carried out for genotype phenotype correlation. Array-CGH detected a 2.8 Mb terminal deletion at 15q26.3 along with a 496 kb interstitial micro-duplication, encompassing the IGF1R gene, in the affected genomic region, which was otherwise missed on conventional karyotype.

CONCLUSION:

The present study highlights the importance of aCGH in not only delineating specific phenotypes through accurate genotypic correlation but also in detection and evaluation of ring chromosome with unexpected complex rearrangements.

KEYWORDS:

Array-comparative genomic hybridization (aCGH); Duplication/deletion; IGF-1R gene; Microcephaly; Ring chromosome 15

Supplemental Content

Full text links

Icon for BioMed Central Icon for PubMed Central
Loading ...
Support Center