{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:07:52Z","timestamp":1761718072609},"reference-count":40,"publisher":"Wiley","issue":"16","license":[{"start":{"date-parts":[[2008,7,15]],"date-time":"2008-07-15T00:00:00Z","timestamp":1216080000000},"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":[[2008,8,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on two patients with de novo subtelomeric terminal deletion of chromosome 6p. Patient 1 is an 8\u2010month\u2010old female born with normal growth parameters, typical facial features of 6pter deletion, bilateral corectopia, and protruding tongue. She has severe developmental delay, profound bilateral neurosensory deafness, poor visual contact, and hypsarrhythmia since the age of 6 months. Patient 2 is a 5\u2010year\u2010old male born with normal growth parameters and unilateral hip dysplasia; he has a characteristic facial phenotype, bilateral embryotoxon, and moderate mental retardation. Further characterization of the deletion, using high\u2010resolution array comparative genomic hybridization (array\u2010CGH; Agilent Human Genome kit 244 K), revealed that Patient 1 has a 8.1 Mb 6pter\u20106p24.3 deletion associated with a contiguous 5.8 Mb 6p24.3\u20106p24.1 duplication and Patient 2 a 5.7 Mb 6pter\u20106p25.1 deletion partially overlapping with that of Patient 1. Complementary FISH and array analysis showed that the inv del dup(6) in Patient 1 originated de novo. Our results demonstrate that simple rearrangements are often more complex than defined by standard techniques. We also discuss genotype\u2013phenotype correlations including previously reported cases of deletion 6p. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32414","type":"journal-article","created":{"date-parts":[[2008,7,15]],"date-time":"2008-07-15T18:56:30Z","timestamp":1216148190000},"page":"2094-2102","source":"Crossref","is-referenced-by-count":30,"title":["Subtelomeric 6p deletion: Clinical and array\u2010CGH characterization in two patients"],"prefix":"10.1002","volume":"146A","author":[{"given":"Danielle","family":"Martinet","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabel","family":"Filges","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nathalie","family":"Besuchet Schmutz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael 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