{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T17:49:12Z","timestamp":1788544152903,"version":"build-2803163510"},"reference-count":22,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2003,11,18]],"date-time":"2003-11-18T00:00:00Z","timestamp":1069113600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2003,12]]},"abstract":"<jats:p>We present here a unique case of a 14\u2010year\u2010old female with autism and some features similar to Rett syndrome (RTT). Genetic analysis demonstrated a large deletion of chromosome 2q instead of a <jats:italic>MECP2<\/jats:italic> mutation. Like a Rett patient, she is dyspraxic and shows frequent hand\u2010washing stereotypic activities, hyperpnea, and bruxism. Like a preserved speech variant (PSV) of RTT, she is obese, able to speak in second and third persons, frequently echolalic, and has final normal head circumference and autistic behavior. In addition, she has dysmorphic features such as down\u2010slanting palpebral fissures, low set ears without lobuli, bilateral flat feet, and bilateral syndactyly of the second and third toes, which do not belong to the Rett spectrum. She has a <jats:italic>de novo<\/jats:italic> chromosomal deletion in 2q34 of paternal origin. Gene content analysis of the deleted region showed the presence of 47 genes (14 putative and 33 known genes). This region contains some interesting genes such as <jats:italic>ADAM23<\/jats:italic>\/<jats:italic>MDC3<\/jats:italic>, <jats:italic>CREB1<\/jats:italic>, <jats:italic>KLF7<\/jats:italic>, and <jats:italic>MAP2<\/jats:italic>. Because alteration of neuronal maturation, dendritic anomalies, and a decrease in MAP2 immunoreactivity in white matter neurons are well documented in RTT patients, we propose <jats:italic>MAP2<\/jats:italic> gene as a good candidate for the generation of PSV phenotype in this case.<\/jats:p>","DOI":"10.1046\/j.1399-0004.2003.00176.x","type":"journal-article","created":{"date-parts":[[2003,11,20]],"date-time":"2003-11-20T21:03:19Z","timestamp":1069362199000},"page":"497-501","source":"Crossref","is-referenced-by-count":46,"title":["Chromosome 2 deletion encompassing the <i>MAP2<\/i> gene in a patient with autism and Rett\u2010like 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