{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T15:42:43Z","timestamp":1764171763526},"reference-count":17,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2003,3,5]],"date-time":"2003-03-05T00:00:00Z","timestamp":1046822400000},"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":[[2003,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The short\u2010stature homeobox\u2010containing gene (<jats:italic>SHOX<\/jats:italic>) on chromosome Xp22.3 was recently identified as an important determinant of the stature phenotype. Deletions of the <jats:italic>SHOX<\/jats:italic> gene, some of them due to structural chromosome abnormalities, have been described in patients with idiopathic short stature and Leri\u2010Weill syndrome. Additionally, haploinsufficiency of SHOX is a main cause for short stature seen in patients with Turner syndrome.<\/jats:p><jats:p>Here we report an unusual X\u2010chromosome abnormality, which was detected during a fetal karyotyping performed because of a previous child with Down syndrome. GTG banding demonstrated an extra chromosome segment on the terminal part of the short arm of chromosome X in the index case (karyotype: 46,X,Xp+). The same chromosomal abnormality was found in the mother and the maternal grandmother. All carriers of this chromosomal abnormality presented with short stature but no other associated symptoms.<\/jats:p><jats:p>Whole chromosome painting of X revealed a homogeneous painting of the abnormal X chromosome indicating that no other chromosome was involved. Additional FISH studies with probe DXS1140 (Kallmann probe at Xp22.3), Quint\u2010Essential X\u2010Specific DNA (DMD probe at Xp21.2), XIST (at Xq13.2), and Tel Xq\/Yq were performed, and no abnormality was observed in the intensities or the localizations of the probes signals. However, applying a specific <jats:italic>SHOX<\/jats:italic> gene probe (derived from cosmid LLNONO3M34F5) showed a loss of signal on the derivative X chromosome. Our results show that the Xp+ generation led to a deletion of the complete <jats:italic>SHOX<\/jats:italic> gene and caused short stature in the presented family. Copyright \u00a9 2003 John Wiley &amp; Sons, Ltd.<\/jats:p>","DOI":"10.1002\/pd.592","type":"journal-article","created":{"date-parts":[[2003,4,1]],"date-time":"2003-04-01T19:05:16Z","timestamp":1049223916000},"page":"336-339","source":"Crossref","is-referenced-by-count":3,"title":["A familial Xp+ chromosome detected during fetal karyotyping, which is associated with short stature in four generations of a Turkish family"],"prefix":"10.1002","volume":"23","author":[{"given":"B.","family":"Karaman","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Wollnik","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Ermi\u015f","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Y\u00fcksel\u2010Apak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Ba\u015faran","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,3,5]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.86.24.10001"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0198-67"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1159\/000063458"},{"key":"e_1_2_1_5_1","first-page":"811","article-title":"Deletions within the pseudoautosomal region help map three new markers and indicate a possible role of this region in linear growth","volume":"49","author":"Henke A","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.84.12.6289"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.31.8.649"},{"key":"e_1_2_1_8_1","first-page":"455","article-title":"Short stature in a girl with a terminal Xp deletion distal to DXYS15: localisation of a growth gene(s) in the pseudoautosomal region","volume":"29","author":"Ogata T","year":"1992","journal-title":"J Med Genet"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.10.831"},{"key":"e_1_2_1_10_1","doi-asserted-by":"crossref","first-page":"5498","DOI":"10.1210\/jcem.86.11.8058","article-title":"Turner syndrome and Xp deletions: clinical and molecular studies in 47 patients","volume":"86","author":"Ogata T","year":"2001","journal-title":"Clin Endocrinol Metab"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.1.1"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0597-54"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.26.3083"},{"key":"e_1_2_1_14_1","doi-asserted-by":"crossref","first-page":"5674","DOI":"10.1210\/jcem.86.12.8125","article-title":"Phenotypes associated with SHOX deficiency","volume":"86","author":"Ross JL","year":"2001","journal-title":"Clin Endocrinol Metab"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990101)82:1<34::AID-AJMG7>3.0.CO;2-Q"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0198-70"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990423)83:5<367::AID-AJMG5>3.0.CO;2-K"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1159\/000010323"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.592","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.592","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,17]],"date-time":"2023-11-17T13:57:23Z","timestamp":1700229443000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.592"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,3,5]]},"references-count":17,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2003,4]]}},"alternative-id":["10.1002\/pd.592"],"URL":"https:\/\/doi.org\/10.1002\/pd.592","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,3,5]]}}}