{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,25]],"date-time":"2026-01-25T03:34:50Z","timestamp":1769312090310,"version":"3.49.0"},"reference-count":19,"publisher":"BMJ","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1990,8]]},"abstract":"<jats:p>Reciprocal translocations involving the short arm of acrocentric chromosomes can segregate to produce partial duplications without associated deletions. We present a case of an infant with a 46,XY,-15,+der(15),T(6;15)(q23;p12)pat chromosome complement. The infant had multiple congenital abnormalities including cranial anomalies, facial dysmorphism, anterior webbing of the neck, cardiac anomalies, and joint contractures. From a comparison of the infant's phenotype with 20 other patients with a similar duplication, it is evident that partial duplication of the long arm of chromosome 6 is a clinically diagnosable syndrome.<\/jats:p>","DOI":"10.1136\/jmg.27.8.523","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"523-526","source":"Crossref","is-referenced-by-count":43,"title":["Partial duplication of the long arm of chromosome 6: a clinically recognisable syndrome."],"prefix":"10.1136","volume":"27","author":[{"given":"E K","family":"Pivnick","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M B","family":"Qumsiyeh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A T","family":"Tharapel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J B","family":"Summitt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R S","family":"Wilroy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1990,8,1]]},"reference":[{"issue":"12","key":"ref_1","first-page":"133","article-title":"Trisomie partielle pour le bras long d'un C (?6) par translocation t(6p+; Cqs+)","volume":"1969","author":"de Grouchy J; I, Emerit; J, Aicardi","unstructured":"de Grouchy J, Emerit I, Aicardi J. Trisomie partielle pour le bras long d'un C (?6) par translocation t(6p+;Cqs+). Ann Genet (P'aris) 1969;12:133-7.","journal-title":"Ann Genet (P'aris)"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1111\/j.1399-0004.1981.tb00697.x","article-title":"Trisomy 6qter","volume":"19","author":"Turleau, C.; de Grouchy, J.","year":"1981","unstructured":"Turleau C, de Grouchy J. Trisomy 6qter. Clin Genet 1981;19: 202-6.","journal-title":"Clin Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1111\/j.1399-0004.1981.tb00681.x","article-title":"Partial trisomy 6q, due to balanced maternal translocation (6; 22)(q2l; pl3) or (q21; pter)","volume":"19","author":"Stamberg, J.; Shapiro, J.; Valle, D.; ei al","year":"1981","unstructured":"Stamberg J, Shapiro J, Valle D, ei al. Partial trisomy 6q, due to balanced maternal translocation (6;22)(q2l;pl3) or (q21;pter). 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