{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,17]],"date-time":"2025-12-17T17:48:03Z","timestamp":1765993683309},"reference-count":9,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4130,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1994,2,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Routine amniocentesis for advanced maternal age led to the prenatal diagnosis of a fetus with a karyotype of a 46,XX,del(2)(p21p22). At delivery the baby had holoprosencephaly as the major clinical finding, which has been associated with a deletion of band 2p21 in several other case reports. Chromosome studies of the parents showed a normal 46,XY karyotype in the father, and a balanced interstitial insertion 46,XX dir ins (11;2)(p15.1;p21p22) in the mother. Subsequent chromosome studies of other relatives documented a 23\u2010year\u2010old half\u2010brother of the proposita with a partial trisomy for the segment deleted in the proposita. The half\u2010brother showed the derivative chromosome 11 from the mother, resulting in a 46,XY,der(11)dup(2)(p21p22) karyotype. Major clinical findings include short stature, mild development delay, and behavior abnormalities. A half\u2010sister of the proposita is also a balanced carrier of the dir ins (11;2) (p15.1;p21p22.2). The association of the deletion chromosome band 2p21 and the clinical finding of holoprosencephaly is further supported by the findings in this family. \u00a9 1994 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320490414","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:57:00Z","timestamp":1118509020000},"page":"422-427","source":"Crossref","is-referenced-by-count":15,"title":["Duplication and deletion of chromosome band 2(p21p22) resulting from a familial interstitial insertion (2;11)(p21;p15)"],"prefix":"10.1002","volume":"49","author":[{"given":"Jeffrey R.","family":"Sawyer","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emmett","family":"Jones","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Flora F.","family":"Hawks","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"suffix":"Jr.","given":"J. Gerald","family":"Quirk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christopher","family":"Cunniff","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.19.2.148"},{"key":"e_1_2_1_3_1","volume-title":"Chromosome Abnormalities and Genetic Counseling","author":"Gardner RJM","year":"1989"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320340231"},{"key":"e_1_2_1_5_1","unstructured":"HechtF PeakmanD Kaiser\u2010McCawB BeauchampR ChristiansenS(1980):Minute deletion of chromosome 2 in major brain malformation: Holoprosencephaly. Presented in Tucson Arizona at the 18th Annual Somatic Cell Genetics Conf. 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