Mosaic chromosome 18 anomaly delineated in a child with dysmorphism using a three-pronged cytogenetic techniques approach: a case report

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. A 7-year-old female was referred for diagnosis due to gross facial...

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Bibliographic Details
Published in:BMC medical genomics 2020-09, Vol.13 (1), p.141-141, Article 141
Main Authors: Sheth, Harsh, Trivedi, Sunil, Liehr, Thomas, Patel, Ketan, Jain, Deepika, Sheth, Jayesh, Sheth, Frenny
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Abnormalities, Multiple - pathology
Adult
Age
Analysis
Case Report
Case reports
Cell lines
Child
Chromosome 18
Chromosome banding
Chromosomes
Chromosomes, Human, Pair 18 - genetics
Cranial sutures
Craniosynostosis
Cytogenetic Analysis - methods
Cytogenetics
Developmental Disabilities - genetics
Developmental Disabilities - pathology
Female
Genotype & phenotype
Humans
Hypotheses
Intellectual disabilities
Karyotyping
Male
Methods
Microarray
Molecular cytogenetics
Molecular karyotyping
Mosaic chromosome 18
Multi-color banding
Patients
Pigmentation
Ring chromosome r
Ring Chromosomes
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Summary: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. 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. 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.
ISSN:1755-8794
1755-8794
DOI:10.1186/s12920-020-00796-9