{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:07:23Z","timestamp":1761718043710},"reference-count":16,"publisher":"Wiley","issue":"22","license":[{"start":{"date-parts":[[2007,10,15]],"date-time":"2007-10-15T00:00:00Z","timestamp":1192406400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2007,11,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Subtelomeric imbalances have been implicated in developmental delay and mental retardation (MR) and described for most chromosomes. This study reports the first detailed description of two individuals with de novo 12q subtelomere deletions and high\u2010resolution mapping of their deletion size with oligonucleotide array CGH for genotype\/phenotype comparisons. Patient 1 is an 8\u2010year\u2010old male with borderline mild MR, food\u2010seeking behavior, obesity, no significant dysmorphic facial features, abnormal hair whorl pattern, brachydactyly and mild clinodactyly. Patient 2 is a 12\u2010year\u2010old male with mild MR, food\u2010seeking behavior, obesity, short stature, mild dysmorphic facial features, multicystic kidney and unilateral cryptorchidism. Both patients share a deleted region of \u223c1.6 Mb, including 14 known genes, which perhaps contributed to their similar phenotypes. However, Patient 2 has more severe MR and organ system involvement, possibly due to the larger deletion size (\u223c4.5 Mb) including an additional eight genes, although it is difficult to make phenotype\/genotype correlations based on only two patients. Due to the relatively mild presentation of both of our patients, we propose that a proportion of individuals with subtelomeric imbalances may go undetected and therefore, recommend subtelomeric studies be carried out for cases of unexplained mild MR or isolated learning disability (LD) with behavioral problems in the absence of major dysmorphic features or birth defects. In addition, 12q subtelomeric deletions should be considered in the differential diagnosis of patients presenting with food\u2010seeking behavior and resultant obesity, as well as those referred to rule out Prader\u2013Willi syndrome. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32005","type":"journal-article","created":{"date-parts":[[2007,10,16]],"date-time":"2007-10-16T01:16:29Z","timestamp":1192497389000},"page":"2700-2705","source":"Crossref","is-referenced-by-count":18,"title":["Genotype\/phenotype correlations in two patients with 12q subtelomere deletions"],"prefix":"10.1002","volume":"143A","author":[{"given":"Dmitriy M.","family":"Niyazov","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zafar","family":"Nawaz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"April N.","family":"Justice","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helga V.","family":"Toriello","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christa Lese","family":"Martin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margaret P.","family":"Adam","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,10,15]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.3.145"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0295-132"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/302998"},{"key":"e_1_2_7_5_1","unstructured":"Lese MartinC NawazZ BaldwinEL WallaceEJ JusticeAN LedbetterDH.2000.The evolution of molecular ruler analysis for characterizing telomere imbalances: From FISH to array CGH. 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