Mosaic chromosome 18 anomaly delineated in a child with dysmorphism using a three-pronged cytogenetic techniques approac
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CASE REPORT
Open Access
Mosaic chromosome 18 anomaly delineated in a child with dysmorphism using a three-pronged cytogenetic techniques approach: a case report Harsh Sheth1, Sunil Trivedi1, Thomas Liehr2, Ketan Patel3, Deepika Jain4, Jayesh Sheth1 and Frenny Sheth1*
Abstract Background: A plethora of cases are reported in the literature with iso- and ring-chromosome 18. However, cooccurrence 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. Keywords: Molecular karyotyping, Microarray, Molecular cytogenetics, Multi-color banding, Ring chromosome r(18), Mosaic chromosome 18, Case report
Background Structural anomalies involving chromosome 18 (chr18) are relatively frequently observed with an incidence at birth of ~ 1/40,000 [1–4]. These anomalies are grouped into 18q-, 18p-, ring 18 and tetrasomy 18p [5]. Ring chromosome 18 (r18) has been reported in several cases where a normal maternal or paternal chromosome is replaced by r18. Majority of the patients are female and present with a milder clinical * Correspondence: [email protected] 1 FRIGE’s Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad 380015, India Full list of author information is available at the end of the article
phenotype compared to patients with chromosome 18 long-arm deletions [6]. In most cases, the inherent instability of ring chromosomes leads to loss of the ring, double ring, and/or multiple copies of the ring chromosome in a variable percentage of cells [7]. r18 and isochromosome anomaly individually are well documented in the literature. However, their occurrence together as mosaic cell lines have been reported only in a few cases, yet [8–10]. Isochromosome 18q (92% cells) along with r18 (8% cells) was reported by Souraty et al. [8] in a girl with congenital anomalies. Madan et al. [9] reported a baby girl with mosaicism consisting of cells of an iso-pseudo dicentric chromosome 18 (psu idic(18)(p11). Another case (a baby girl)
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