Ring chromosome 8 [46 XY, r(8)]: array of manifestations in a 4 months old male child – a case report

Ankur Jindal; Komal Uppal; Sunil Kumar Polipalli; Seema Kapoor

doi:10.24911/JBCGenetics.183-1717853866

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Case Report

JBCGenetics. 2024; 7(1): 048-053

doi: 10.24911/JBCGenetics.183-1717853866

Ring chromosome 8 [46 XY, r(8)]: array of manifestations in a 4 months old male child – a case report

Ankur Jindal, Komal Uppal, Sunil Kumar Polipalli, Seema Kapoor.

Abstract
Background: Ring chromosome 8 is a rare cytogenetic condition, with limited clinical and genetic characterization.
Case Presentation: We hereby report a case of a 4-month-old male child with craniofacial dysmorphism (microcephaly, aural dysplasia, anteverted nares, micrognathia, and visuo-ocular manifestations), global developmental delay, hypotonia, cryptorchidism, and other skeletal abnormalities. Investigations further facilitated the detection of semilobar holoprosencephaly, non-obstructive hypertrophic cardiomyopathy, and mal-ascended ectopic kidney.
Result: GTG-Banding revealed a Karyotype 46 XY, r(8) in the proband, while a normal parental karyotype suggesting non-inheritance of ring chromosome.
Conclusion: A wide array of features accompany ring chromosome 8 which have not yet been delineated into a recognizable syndrome.

Key words: Case report, ring chromosome 8.

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Pubmed Style

Jindal A, Uppal K, Polipalli SK, Kapoor S. Ring chromosome 8 [46 XY, r(8)]: array of manifestations in a 4 months old male child – a case report. JBCGenetics. 2024; 7(1): 048-053. doi:10.24911/JBCGenetics.183-1717853866

Web Style

Jindal A, Uppal K, Polipalli SK, Kapoor S. Ring chromosome 8 [46 XY, r(8)]: array of manifestations in a 4 months old male child – a case report. https://www.jbcgenetics.com/?mno=204895 [Access: November 14, 2024]. doi:10.24911/JBCGenetics.183-1717853866

AMA (American Medical Association) Style

Jindal A, Uppal K, Polipalli SK, Kapoor S. Ring chromosome 8 [46 XY, r(8)]: array of manifestations in a 4 months old male child – a case report. JBCGenetics. 2024; 7(1): 048-053. doi:10.24911/JBCGenetics.183-1717853866

Vancouver/ICMJE Style

Jindal A, Uppal K, Polipalli SK, Kapoor S. Ring chromosome 8 [46 XY, r(8)]: array of manifestations in a 4 months old male child – a case report. JBCGenetics. (2024), [cited November 14, 2024]; 7(1): 048-053. doi:10.24911/JBCGenetics.183-1717853866

Harvard Style

Jindal, A., Uppal, . K., Polipalli, . S. K. & Kapoor, . S. (2024) Ring chromosome 8 [46 XY, r(8)]: array of manifestations in a 4 months old male child – a case report. JBCGenetics, 7 (1), 048-053. doi:10.24911/JBCGenetics.183-1717853866

Turabian Style

Jindal, Ankur, Komal Uppal, Sunil Kumar Polipalli, and Seema Kapoor. 2024. Ring chromosome 8 [46 XY, r(8)]: array of manifestations in a 4 months old male child – a case report. Journal of Biochemical and Clinical Genetics, 7 (1), 048-053. doi:10.24911/JBCGenetics.183-1717853866

Chicago Style

Jindal, Ankur, Komal Uppal, Sunil Kumar Polipalli, and Seema Kapoor. "Ring chromosome 8 [46 XY, r(8)]: array of manifestations in a 4 months old male child – a case report." Journal of Biochemical and Clinical Genetics 7 (2024), 048-053. doi:10.24911/JBCGenetics.183-1717853866

MLA (The Modern Language Association) Style

Jindal, Ankur, Komal Uppal, Sunil Kumar Polipalli, and Seema Kapoor. "Ring chromosome 8 [46 XY, r(8)]: array of manifestations in a 4 months old male child – a case report." Journal of Biochemical and Clinical Genetics 7.1 (2024), 048-053. Print. doi:10.24911/JBCGenetics.183-1717853866

APA (American Psychological Association) Style

Jindal, A., Uppal, . K., Polipalli, . S. K. & Kapoor, . S. (2024) Ring chromosome 8 [46 XY, r(8)]: array of manifestations in a 4 months old male child – a case report. Journal of Biochemical and Clinical Genetics, 7 (1), 048-053. doi:10.24911/JBCGenetics.183-1717853866

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