{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:06:10Z","timestamp":1761717970207},"reference-count":32,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":8189,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1983,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We present a dup (10p) due to a t(10;14) (p11;p12)mat with a malformation syndrome in a girl. The analysis of 37 published cases shows that 31 patients (16 \u2642; 15 \u2640) had either a mother or a father carrying a balanced translocation; one case was due to a paternal and another due to a maternal pericentric inversion; two cases were due to de novo translocations; one case had a partial duplication of 10p; and one case had a supernumerary ring chromosome composed of 10p material.<\/jats:p><jats:p>The phenotypic spectrum of the condition was analyzed. It is a specific multiple congenital anomalies\/mental retardation (MCA\/MR) syndrome which includes characteristic facial appearance (dolichocephaly, frontal bossing, short nose with a broad root, highly arched and upswept eyebrows, long philtrum, and thin lips), postnatal growth retardation, severe mental and psychomotor retardation, and several major and minor anomalies. Pseudohermaphroditism seems to be an important anomaly being present in 15 to 20% of affected males. A hypothenar crease together with a transverse crease forming a \u201ccrease triangle\u201d seems a helpful sign in the clinical diagnosis of duplication 10p.<\/jats:p>","DOI":"10.1002\/ajmg.1320140122","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T15:34:20Z","timestamp":1118504060000},"page":"159-167","source":"Crossref","is-referenced-by-count":14,"title":["Duplication 10p in a girl due to a maternal translocation t(10;14) (p11:p12)"],"prefix":"10.1002","volume":"14","author":[{"given":"Claudette H.","family":"Gonzalez","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana Elisa C.","family":"Billerbeck","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luiza C.","family":"Takayama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anita","family":"Wajntal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291912"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00278867"},{"key":"e_1_2_1_4_1","first-page":"5","article-title":"Trisomy 10p. A report of two cases due to a familial translocation rep (10;21) (p11;p11)","volume":"18","author":"Cant\u00fa J\u2010M, Salamanca F","year":"1975","journal-title":"Ann Genet"},{"key":"e_1_2_1_5_1","first-page":"353","article-title":"Trisomia 10p da t(Y;10) (p11;p11) \u201cde novo\u201d","volume":"71","author":"Chessa L","year":"1979","journal-title":"Pathologica"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00295588"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00277575"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00399390"},{"key":"e_1_2_1_9_1","article-title":"Partial duplication of the short arm of the chromosome 10","volume":"46","author":"Fryns JP","year":"1979","journal-title":"Karyotype"},{"key":"e_1_2_1_9_2","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1007\/BF00273206","volume":"47","journal-title":"Hum Genet"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00430351"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1973.tb00601.x"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1974.tb02264.x"},{"key":"e_1_2_1_13_1","first-page":"88","article-title":"An intersexual infant with an extra chromosome","volume":"11","author":"Insley J","year":"1968","journal-title":"Ann Genet"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00446626"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.18.1.59"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00273107"},{"key":"e_1_2_1_17_1","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1007\/BF00273324","article-title":"Exclusion of gene mapping utilizing patients with chromosome imbalance","volume":"27","author":"Magenis RE","year":"1975","journal-title":"Humangenetik"},{"key":"e_1_2_1_18_1","first-page":"195","article-title":"Deux cas de trisomie 10p partielle dus \u00e0 une translocation paternelle t(10;18) (p13;q23)","volume":"19","author":"Mori\u0107\u2010Petrovi\u0107 S","year":"1976","journal-title":"Ann Genet"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.12.4.412"},{"key":"e_1_2_1_20_1","first-page":"221","article-title":"Trisomy for the short arm of chromosome 10","volume":"25","author":"Penchaszadeh VB","year":"1977","journal-title":"J Genet Hum"},{"key":"e_1_2_1_21_1","first-page":"1490","article-title":"La trisomie 1 0p: Etude clinique et biochimique","volume":"108","author":"Rochon M","year":"1979","journal-title":"Union Med Can"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1978.tb02098.x"},{"key":"e_1_2_1_23_1","first-page":"209","article-title":"Trisomie 10p partielle d'origine paternelle. Deux nouvelles observations dans deux families diff\u00e9rentes","volume":"20","author":"Rolland M","year":"1977","journal-title":"Ann Genet"},{"key":"e_1_2_1_24_1","first-page":"163","article-title":"Brother and sister with trisomy 1 0p: A new syndrome","volume":"23","author":"Schleiermacher E","year":"1974","journal-title":"Humangenetik"},{"key":"e_1_2_1_25_1","volume-title":"Sex Differentiation and Chromosomal Abnormalities","author":"Sekhon GS","year":"1978"},{"issue":"6","key":"e_1_2_1_25_2","first-page":"422","author":"National Foundation\u2013March of Dimes","journal-title":"BD:OAS"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00273148"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00442193"},{"key":"e_1_2_1_28_1","first-page":"251","article-title":"La trisomie 10p. A propos d'une observation due a une translocation maternelle","volume":"35","author":"Stoll C","year":"1980","journal-title":"Pediatrie"},{"key":"e_1_2_1_29_1","first-page":"61","article-title":"Trisomie 10p","volume":"19","author":"Turleau C","year":"1976","journal-title":"Une observation ancienne pr\u00e9cis\u00e9e par marquage. 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