{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,7,27]],"date-time":"2024-07-27T16:37:03Z","timestamp":1722098223911},"reference-count":40,"publisher":"Walter de Gruyter GmbH","issue":"0","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2016,1,28]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The 22q13 deletion syndrome or Phelan-McDermid syndrome is a neurodevelopmental disorder associated with developmental delay, hypotonia, delayed or absent speech, autistic-like behavior, normal to accelerated growth and dysmorphic faces. We report the occurrence of central precocious puberty in a boy diagnosed with Phelan-McDermid syndrome. At the age of 1 year, our patient presented with increased testicular volume for his age, bone age advancement and growth acceleration. Stimulated gonadotropin levels demonstrated a premature activation of the hypothalamic-pituitary-gonadal (HPG) axis. Central precocious puberty was treated with gonadotropin-releasing hormone (GnRH) analog. Molecular diagnosis with array-comparative genomic hybridization (CGH) revealed a major deletion of 5.8 Mb at the 22q13 chromosomal region and a 25 kb duplication at the 9q34.3 region that included the<\/jats:p>","DOI":"10.1515\/jpem-2015-0484","type":"journal-article","created":{"date-parts":[[2016,5,28]],"date-time":"2016-05-28T10:01:26Z","timestamp":1464429686000},"source":"Crossref","is-referenced-by-count":2,"title":["Central precocious puberty in a boy with 22q13 deletion syndrome and NOTCH-1 gene duplication"],"prefix":"10.1515","volume":"0","author":[{"given":"Aris","family":"Giannakopoulos","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helen","family":"Fryssira","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Tzetis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Athina","family":"Xaidara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christina","family":"Kanaka-Gantenbein","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","reference":[{"key":"ref281","doi-asserted-by":"crossref","first-page":"1431","DOI":"10.1002\/ajmg.a.31773","article-title":"Whole-genome array-CGH identifies novel contiguous gene deletions and duplications associated with developmental delay, mental retardation, 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