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Potocki–Lupski syndrome (PTLS), also known as dup(17)p11.2p11.2 syndrome, trisomy 17p11.2 or duplication 17p11.2 syndrome, is a contiguous gene syndrome involving the microduplication of band 11.2 on the short arm of human chromosome 17 (17p11.2). The duplication was first described as a case study in 1996. In 2000, the first study of the disease was released, and in 2007, enough patients had been gathered to complete a comprehensive study and give it a detailed clinical description.〔 PTLS is named for two researchers involved in the latter phases, Drs. Lorraine Potocki and James R. Lupski of Baylor College of Medicine.〔 PTLS was the first predicted reciprocal of a homologous recombination (microdeletion or microduplication) where both reciprocal recombinations result in a contiguous gene syndrome.〔 Its reciprocal disease is Smith-Magenis syndrome (SMS), in which the chromosome portion duplicated in PTLS is deleted altogether.〔 Potocki–Lupski syndrome is considered a rare disease, predicted to appear in at least 1 in 20,000 humans. Symptoms of the syndrome include mild mental retardation, autism,〔 and other disorders unrelated to the listed symptoms. == Characteristics == Clinically, PTLS presents as a milder syndrome than SMS, with distinct characteristics, though PTLS can be mistaken for SMS.〔 Both syndromes are characterized by multiple congenital abnormalities and mental retardation. A key feature which appears in 80% of cases is autism spectrum disorder.〔 Other unique features of Potocki–Lupski syndrome include infantile hypotonia, sleep apnea, structural cardiovascular anomalies, cognitive deficits, abnormal social behaviors, learning disabilities, attention-deficit disorder, obsessive-compulsive behaviours, malocclusions, short stature and failure to thrive.〔 After noting that autism is commonly associated with PTLS, researchers at the Centro de Estudios Científicos and the Universidad Austral de Chile genetically engineered a PTLS "model mouse" where the syntenic chromosome segment was duplicated, and examined the social behaviours of these mice versus those without the anomaly (the "wild-type").〔 One human autism-related symptom is abnormal reciprocal social interaction.〔 The researchers observed that the genetically-engineered mice of both sexes had a slight (statistically insignificant) impairment of their preference of a social target (i.e., a living, breathing mouse) over an inanimate one — the average human will prefer the social target — and preferred to explore newly introduced mice instead of familiar ones, unlike the typical human and mouse preference of a friend over a stranger, demonstrating a change in their liking of social novelty. They also found that male mice, in some scenarios, showed increased anxiety and dominant behaviour than the control group. Anatomically, the engineered mice had a decreased brain-to-body mass ratio and an alteration in the expression of several genes in the hippocampus.〔〔 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Potocki–Lupski syndrome」の詳細全文を読む スポンサード リンク
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