{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T23:27:06Z","timestamp":1792193226039,"version":"4.4.0"},"reference-count":47,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":3949,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1994,8,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Four cases having mosaicism for a small marker or ring [45,X\/46,X,+mar or 45,X\/46,X,+r] chromosome were ascertained following cytogenetic studies requested because of minor anomalies (cases 1, 3, and 4 ) and\/or short stature (cases 2 and 4). While all 4 cases had traits typical of Ullrich\u2010Turner syndrome (UTS), cases 1, 3, and 4 had manifestations not usually present in UTS, including unusual facial appearance, mental retardation\/developmental delay (MR\/DD) (cases 3 and 4), and syndactylies (case 1). The facial appearances of cases 1 and 3 were similar yet distinct from that of case 4.<\/jats:p><jats:p>Using fluorescence in situ hybridization (FISH), each of the markers in these 4 cases was identified as having been derived from an X chromosome. The level of mosaicism for the mar\/r(X) cell line in these cases varied from 70% (case 1) to 16% (case 4) but was not apparently correlated with the presence of MR\/DD. Replication studies demonstrated a probable early replication pattern for the mar\/r(X) in cases 1,3, and 4, while the marker in case 2 was apparently late replicating.<\/jats:p><jats:p>To date, 41 individuals having mosaicism for a small mar\/r(X) chromosome have been described. Interestingly, most of the 14 individuals having a presumedly active mar\/r(X) demonstrated clinical findings atypical of UTS, including abnormal facial changes (11) and MR\/DD (13). MR was noted most frequently in those cases having at least 50% mosaicism for the marker or ring. In contrast, atypical UTS facial appearance or MR\/DD was not noted in 14 of the 16 cases with UTS who carried a probable late replicating marker or ring.<\/jats:p><jats:p>In conclusion, although the phenotype of 45,X\/46,X,mar\/r(X) individuals appears to be influenced by the genetic content and degree of mosaicism for the mar\/r(X), the most significant factor associated with MR\/DD appears to be the activity status of the mar\/r(X) chromosome. Thus, our 4 cases provide further support for the hypothesis that a lack of inactivation of a small mar\/r(X) chromosome may be a factor leading to the MR and other phenotypic abnormalities seen in this subset of individuals having atypical UTS. \u00a9 1994 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320520204","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:16:50Z","timestamp":1118510210000},"page":"136-145","source":"Crossref","is-referenced-by-count":24,"title":["Mental retardation and Ullrich\u2010Turner syndrome in cases with 45,X\/46,X,+ mar: Additional support for the loss of the X\u2010inactivation center hypothesis"],"prefix":"10.1002","volume":"52","author":[{"given":"Heath","family":"Cole","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bing","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bonnie Anne","family":"Salbert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judith","family":"Brown","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia N.","family":"Howard\u2010Peebles","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan H.","family":"Black","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Dorfmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oscar R.","family":"Febles","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cathy A.","family":"Stevens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Colleen","family":"Jackson\u2010Cook","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"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.26.5.330"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.3.2.129"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320340204"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1978.tb04139.x"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/349082a0"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291764"},{"key":"e_1_2_1_8_1","first-page":"27","article-title":"Molecular characterization of marker chromosomes in man","volume":"47","author":"Callen DF","year":"1990","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_9_1","first-page":"156","article-title":"The phenotype of 45, X\/46, XY mosaicism: an analysis of 92 prenatally diagnosed cases","volume":"46","author":"Chang HJ","year":"1990","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1159\/000129946"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00283735"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.18.3.161"},{"key":"e_1_2_1_13_1","first-page":"86","article-title":"Incontinentia pigmenti (IP) and r(X). 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