Extremely Rare Co-Existence of Prader-Willi Syndrome with Triple X: A Case Report from Malaysia
Keywords:
Triple X Syndrome, Prader-Willi syndrome, FISHAbstract
Triple X syndrome is a chromosomal disorder with an extra X chromosome while PWS is a complex imprinting disorder caused by the lack of expression of paternally-inherited genes on chromosome 15q11-q13. Clinical features for most affected individuals with Triple X syndrome are mild. However, individuals with PWS may present with complications of the endocrine and neurology systems, as well as cognitive and behavioural changes. Here, we present a case of an eight-year-old Malaysian Malay girl with the co-existence of Triple X syndrome and PWS. At birth, this patient presented to us with craniofacial abnormalities, neonatal hypotonia, poor sucking, and minor hand and feet anomalies. Karyotype analysis was done at birth and showed she has Triple X syndrome. However, at four years old, she developed an increased obsession with food and appetite as well as having tantrums, especially when denied food. She has delayed speech and motor development (i.e., sitting up and walking). The facial features observed were a narrow face, almond-shaped eyes, a small appearing mouth with a thin upper lip, and down-turned corners of the mouth. She also has some cognitive impairment with learning and intellectual disabilities. The clinical features of the present case meet the clinical diagnostic criteria of PWS. MS-MLPA and FISH analysis confirmed PWS due to paternal deletion of 5q11-q13. In this case report, we highlighted the uniqueness of clinical characteristics of the individual with co-existence PWS and Triple X syndrome for a better understanding of the phenotype-genotype relationship.
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