{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T15:42:30Z","timestamp":1764171750885},"reference-count":32,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2002,5,30]],"date-time":"2002-05-30T00:00:00Z","timestamp":1022716800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2002,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Trisomy 7 mosaicism was detected prenatally in cultured amniocytes but not in fetal lymphocytes. The child that was born had pigmentary changes of the skin and facial asymmetry suggestive of a chromosomal mosaicism. Skin fibroblasts were studied and trisomy 7 mosaicism was confirmed. At 3\u2009years of age the boy had developed mentally within normal limits. However, dysmorphic findings include sparse hair, short leftpalpebral fissure, ptosis of the left eyelid, strabismus, enamel dysplasia, low\u2010set and posteriorly rotated ears and undescended testes. These findings share some common features with previously reported cases of trisomy 7 mosaicism. Copyright \u00a9 2002 John Wiley &amp; Sons, Ltd.<\/jats:p>","DOI":"10.1002\/pd.348","type":"journal-article","created":{"date-parts":[[2002,9,11]],"date-time":"2002-09-11T02:05:28Z","timestamp":1031709928000},"page":"541-544","source":"Crossref","is-referenced-by-count":26,"title":["Prenatally detected trisomy 7 mosaicism in a dysmorphic child"],"prefix":"10.1002","volume":"22","author":[{"given":"Sirpa","family":"Kivirikko","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Riitta","family":"Salonen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Armi","family":"Salo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Harriet","family":"von Koskull","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2002,5,30]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199804)18:4<384::AID-PD263>3.0.CO;2-4"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970905)71:4<406::AID-AJMG7>3.0.CO;2-R"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.12.2.200"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.25.12.809"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320350105"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(88)91415-8"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199809)18:9<975::AID-PD381>3.0.CO;2-I"},{"key":"e_1_2_1_9_1","first-page":"49","article-title":"Trisomy 7 mosaicism and manifestations of Goldenhar syndrome with unilateral radial hypoplasia","volume":"1","author":"Hodes ME","year":"1981","journal-title":"J Craniofac Genet Dev Biol"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.1.68"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970120702"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199703)17:3<201::AID-PD56>3.0.CO;2-H"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb01217.x"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.9.783"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970090609"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1177\/000992288802700908"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1990.tb11543.x"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1034400"},{"key":"e_1_2_1_19_1","first-page":"A98","article-title":"Mosaic trisomy 7 in a male with hypomelanosis of Ito and multiple congenital anomalies","volume":"57","author":"Newlin AC","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320430413"},{"key":"e_1_2_1_21_1","first-page":"54","article-title":"Abnormal skin fibroblast cytogenetics in four dysmorphic patients with normal lymphocyte chromosome","volume":"31","author":"Pagon RA","year":"1979","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1984.tb00499.x"},{"key":"e_1_2_1_23_1","first-page":"877","article-title":"Postnatal confirmation of prenatally diagnosed trisomy 16 mosaicism in two phenotypically abnormal liveborns","volume":"15","author":"Pletcher BA","year":"1995","journal-title":"Prenat Diagn"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980428)77:1<72::AID-AJMG15>3.0.CO;2-L"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19971031)72:3<343::AID-AJMG18>3.0.CO;2-T"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19971003)72:1<106::AID-AJMG21>3.0.CO;2-U"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.6.512"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)81606-3"},{"key":"e_1_2_1_29_1","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1001\/archderm.1983.01650290031012","article-title":"Incontinentia pigmenti achromians (Ito)","volume":"119","author":"Takematsu H","year":"1983","journal-title":"Arch Dermatol"},{"key":"e_1_2_1_30_1","first-page":"193","article-title":"Association of pigmentary anomalies with chromosomal and genetic mosaicism and chimeras","volume":"45","author":"Thomas IT","year":"1989","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320260121"},{"key":"e_1_2_1_32_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1992.tb03404.x"},{"key":"e_1_2_1_33_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00279043"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.348","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.348","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,18]],"date-time":"2023-11-18T12:38:17Z","timestamp":1700311097000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.348"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,5,30]]},"references-count":32,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2002,7]]}},"alternative-id":["10.1002\/pd.348"],"URL":"https:\/\/doi.org\/10.1002\/pd.348","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,5,30]]}}}