Mosaic Chromosome 18 Anomaly Delineated in a Child with Dysmorphism Using a Three-pronged Cytogenetic Techniques Approach: a Case Report

Overview

Journal BMC Med Genomics

Publisher Biomed Central

Specialty Genetics

Date 2020 Sep 25

PMID 32972420

Authors

Harsh Sheth

Sunil Trivedi

Thomas Liehr

Ketan Patel

Deepika Jain

Jayesh Sheth

Frenny Sheth

Affiliations

Soon will be listed here.

Abstract

Background: A plethora of cases are reported in the literature with iso- and ring-chromosome 18. However, co-occurrence of these two abnormalities in an individual along with a third cell line and absence of numerical anomaly is extremely rare.

Case Presentation: A 7-year-old female was referred for diagnosis due to gross facial dysmorphism and severe developmental delay. She presented with dysmorphic features, hypo/hyper pigmentation of the skin, intellectual disability and craniosynostosis. G-banding chromosome analysis suggested mos 46,XX,psu idic(18)(p11.2)[25]/46,XX,r(?18)[30]. Additional analysis by molecular karyotyping suggested pure partial deletion of 15 Mb on 18p (18p11.32p11.21). Lastly, multiple rearrangements and detection of a third cell line (ring chr18 and interstitial deletion) of chr18 was observed by multi-color banding.

Conclusion: The current study presents a novel case of chromosomal abnormalities pertaining to chromosome 18 across 3 cell lines, which were delineated with a combinatorial approach of diagnostic methods.

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