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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