{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T00:17:39Z","timestamp":1760833059440,"version":"build-2065373602"},"reference-count":29,"publisher":"BMJ","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1992,9]]},"abstract":"<jats:p>Although recent molecular studies in patients with sex chromosome aberrations are consistent with a growth gene(s) being present in the pseudoautosomal region (PAR), the precise location has not been determined. In this report, we describe a Japanese boy and his mother with an interstitial deletion in Xp22.3 and review the correlation between genotype and stature in six cases of partial monosomy of the PAR. The results indicate that the region from DXYS20 to DXYS15 is the critical region for the putative growth gene(s).<\/jats:p>","DOI":"10.1136\/jmg.29.9.624","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"624-628","source":"Crossref","is-referenced-by-count":31,"title":["Chromosomal localisation of a pseudoautosomal growth gene(s)."],"prefix":"10.1136","volume":"29","author":[{"given":"T","family":"Ogata","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Petit","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Rappold","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N","family":"Matsuo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T","family":"Matsumoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"Goodfellow","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1992,9,1]]},"reference":[{"key":"ref_1","first-page":"5","article-title":"male standard 169-7","author":"S.D.","year":"1980","unstructured":"+ 03 SD, 1980 male standard 169-7 \u00b1 5-6 cm)"},{"key":"ref_2","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.; Wapenaar, M.; van Ommen, G.-J.; Maraschio, P.; Camerino, G.; Rappold, G.","year":"1991","unstructured":"Henke A, Wapenaar M, van Ommen G-J, Maraschio P, Camerino G, Rappold G. Deletions within the pseudoautosomal region help map three new markers and indicate a possible role of this region in linear growth. Am J Hum Genet 1991;49:811-9.","journal-title":"Am J Hum Genet"},{"key":"ref_3","first-page":"455","article-title":"Short stature in a girl with a terminal Xp deletion distal to DXYSIS: localisation of a growth gene(s) in the pseudoautosomal region","volume":"29","author":"Ogata, T.; Goodfellow, P.; Petit, C.; Aya, M.; Matsuo, N.","year":"1992","unstructured":"Ogata T, Goodfellow P, Petit C, Aya M, Matsuo N. Short stature in a girl with a terminal Xp deletion distal to DXYSIS: localisation of a growth gene(s) in the pseudoautosomal region. J Med Genet 1992;29:455-9.","journal-title":"J Med Genet"},{"key":"ref_4","first-page":"247","article-title":"An interstitial deletion in Xp22.3 in a family with X-linked recessive chondrodysplasia punctata and short stature","volume":"85","author":"Petit, C.; Melki, J.; Levilliers, J.; Serville, F.; Weissenbach, J.; Maroteaux, P.","year":"1990","unstructured":"Petit C, Melki J, Levilliers J, Serville F, Weissenbach J, Maroteaux P. An interstitial deletion in Xp22.3 in a family with X-linked recessive chondrodysplasia punctata and short stature. Hum Genet 1990;85:247-50.","journal-title":"Hum Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1002\/ajmg.1320400303","volume":"40","author":"tions","year":"1991","unstructured":"tions. Am J Med Genet 1991;40:260-3.","journal-title":"Am J Med Genet"},{"key":"ref_6","first-page":"111","article-title":"The physical growth of Japanese children from birth to 18 years of age","volume":"42","author":"Tsuzaki, S.; Matsuo, N.; Osano, M.","year":"1987","unstructured":"Tsuzaki S, Matsuo N, Osano M. The physical growth of Japanese children from birth to 18 years of age. Helv Paediatr Acta 1987;42:111-9.","journal-title":"Helv Paediatr Acta"},{"key":"ref_7","first-page":"1535","article-title":"Target height and target range for the Japanese","volume":"94","author":"Ogata, T.; Matsuo, N.; Tamai, S.; Osano, M.; Tango, T.","year":"1990","unstructured":"Ogata T, Matsuo N, Tamai S, Osano M, Tango T. Target height and target range for the Japanese. Acta Paediatr Jpn 1990;94:1535-40.","journal-title":"Acta Paediatr Jpn"},{"key":"ref_8","first-page":"1249","article-title":"Improvement of trypsin method for banding Figure 4 A diagram showing the genotype-phenotype correlations in six cases of partial monosomy of the pseudoautosomal region. The case numbers correspoond to those chromosomes","volume":"i:","author":"Seabright, M.","year":"1973","unstructured":"Seabright M. Improvement of trypsin method for banding Figure 4 A diagram showing the genotype-phenotype correlations in six cases of partial monosomy of the pseudoautosomal region. The case numbers correspoond to those chromosomes. Lancet 1973;i:1249-50.","journal-title":"Lancet"},{"key":"ref_9","article-title":"Cold Spring Harbor Laboratory triangles represent the loci examined in each case","volume-title":"Dosage of CSF2RA in ceases 1","year":"1989","unstructured":"nd ed. New York: Cold Spring Harbor Laboratory triangles represent the loci examined in each case. Dosage of CSF2RA in ceases 1, 2, Press, 1989.","edition":"nd ed"},{"key":"ref_10","first-page":"417","article-title":"MNa-tCu, rePa1g9e85D; C31, 7: W6e8i7s-s9e2.nbach J. A sex chromosome rearrangement in a human XX male caused detected for DNA from a human-rodent hybrid cell line in which the abno, rmal X by Alu-Alu recombination","volume":"51","author":"RopusyeeurdoFa, utSoismommlaelr","year":"1987","unstructured":"RopusyeeurdoFa,utSoismommlaelr. MNa-tCu,rePa1g9e85D;C31,7:W6e8i7s-s9e2.nbach J. A sex chromosome rearrangement in a human XX male caused detected for DNA from a human-rodent hybrid cell line in which the abno, rmal X by Alu-Alu recombination. Cell 1987;51:417-25. chromosome of the patient is retained but the Y chromosome is absent. The physical","journal-title":"Cell; chromosome of the patient is retained but the Y chromosome is absent"},{"key":"ref_11","first-page":"2369","article-title":"genetic linkage map","volume":"8","year":"1988","unstructured":"genetic linkage map. EMBO J 1988;8:2369-76.","journal-title":"EMBO J"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"692","DOI":"10.1038\/317692a0","article-title":"Pseudoautosomal DNA sequences in the pairing region of the human sex chromosomes","volume":"317","author":"Simmler, M.C.; Rouyer, F.; Vergnaud, G.","year":"1985","unstructured":"Simmler MC, Rouyer F, Vergnaud G, et al. Pseudoautosomal DNA sequences in the pairing region of the human sex chromosomes. Nature 1985;317:692-7.","journal-title":"Nature"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"734","DOI":"10.1038\/345734a0","article-title":"Localization of case 6 as having pathological shorrt stature the human GM-CSF receptor gene to the X-Y pseudoautosomal region","volume":"345","author":"Gough, N.M.; Gearing, D.P.; Nicola, N.A.","year":"1990","unstructured":"Gough NM, Gearing DP, Nicola NA, et al. Localization of case 6 as having pathological shorrt stature the human GM-CSF receptor gene to the X-Y pseudoautosomal region. Nature 1990;345:734-6.","journal-title":"Nature"},{"key":"ref_14","first-page":"291","article-title":"A region gradient of sex of the human sex lcihnrkaogmeosionmetsh.e cases 1 and 3 were not available at tthat time, nor was the dosage of CSF2RA analysed","volume":"319","author":"HpJs, eudWoeaiustsoesnobmaaclh J.","year":"1986","unstructured":"HpJs,eudWoeaiustsoesnobmaaclh J. A region gradient of sex of the human sex lcihnrkaogmeosionmetsh.e cases 1 and 3 were not available at tthat time, nor was the dosage of CSF2RA analysed. Nature 1986;319:291-5.","journal-title":"Nature"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1038\/337081a0","article-title":"The pseudoautosomal boundary in man is defined by an Alu repeat sequence inserted on the Y chromosome","volume":"337","author":"Ellis, N.A.; Goodfellow, P.J.; Pym, B.","year":"1989","unstructured":"Ellis NA, Goodfellow PJ, Pym B, et al. The pseudoautosomal boundary in man is defined by an Alu repeat sequence inserted on the Y chromosome. Nature 1989;337:81-4.","journal-title":"Nature"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"4097","DOI":"10.1093\/nar\/12.10.4097","article-title":"A DNA fragment from the human X chromosome short arm which detects a partially homologous sequence on the Y the critical region for the growth gene(s) and that DXYSI 7 defines the proximal liiimit of the chromosome long arm","volume":"12","author":"Koenig, M.; Camerino, G.; Heilig, R.; Mandel, J.L.","year":"1984","unstructured":"Koenig M, Camerino G, Heilig R, Mandel JL. A DNA fragment from the human X chromosome short arm which detects a partially homologous sequence on the Y the critical region for the growth gene(s) and that DXYSI 7 defines the proximal liiimit of the chromosome long arm. Nucleic Acids Res 1984;12:4097-109.","journal-title":"Nucleic Acids Res"},{"key":"ref_17","first-page":"5723","article-title":"detecting single copy X-chromosome fragment, dic56, from Xp22-Xpter. Nucleic Acids","volume":"13","year":"1985","unstructured":"detecting single copy X-chromosome fragment, dic56, from Xp22-Xpter. Nucleic Acids Res 1985;13:5723.","journal-title":"Res"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1038\/344663a0","article-title":"Population structure of the human boundary","volume":"344","author":"doautGooosdofemllaolw P","year":"1990","unstructured":"(0)\/3\/-23.2.*doautGooosdofemllaolw P. Population structure of the human boundary. Nature 1990;344:663-5.","journal-title":"Nature"},{"issue":"1","key":"ref_19","first-page":"23","article-title":"Gonadal dysgenesis and abnormnalities of the human sex chromosomes: current status of phenotypebirth to maturity for height, weight, height velocity and weight velocity: British children","volume":"1","author":"Simpson, J.L.","year":"1965","unstructured":"Simpson JL. Gonadal dysgenesis and abnormnalities of the human sex chromosomes: current status of phenotypebirth to maturity for height, weight, height velocity and weight velocity: British children, 1965. Arch Dis Child karyotype correlations. Birth Defects 1975;1 1:23-59.","journal-title":"Arch Dis Child karyotype correlations. Birth Defects"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1111\/j.1399-0004.1982.tb02077.x","article-title":"Clinical and cytogenetic aspects of X-chromosome dleletions","volume":"21","author":"Goldman, B.; Polani, P.E.; Daker, M.G.; Angell, R.R.","year":"1982","unstructured":"Goldman B, Polani PE, Daker MG, Angell RR. Clinical and cytogenetic aspects of X-chromosome dleletions. Clin Genet 1982;21:36-52.","journal-title":"Clin Genet"},{"issue":"33","key":"ref_21","first-page":"\"613","article-title":"Use and abuse of growth standards","volume":"41","author":"part I","year":"1966","unstructured":";41:454-71 (part I), 1966;41:613-35 (part II). 33 Tanner JM. Use and abuse of growth standards. In: Falkner F, Tanner JM, eds. Human growth. 2nd ed. New York: Plenum, 1985:95-109.","edition":"2nd ed"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"1010","DOI":"10.1056\/NEJM198410183111603","article-title":"In}herited chondrodysplasia punctata due to deletion of the terminal short arm of an X chromosome","volume":"311","author":"Curry, C.J.R.; Magenis, R.E.; Brown, M.","year":"1984","unstructured":"Curry CJR, Magenis RE, Brown M, et al. In}herited chondrodysplasia punctata due to deletion of the terminal short arm of an X chromosome. N Engl 7 Med 1984; 311:1010-5.","journal-title":"N Engl 7 Med"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1136\/jmg.29.8.539","article-title":"Comparison of adult height between patients with XX and YX gonadal dysgenesis support for a Y specific growth gene(s)","volume":"29","author":"Ogata, T.; Matsuo, N.","year":"1992","unstructured":"Ogata T, Matsuo N. Comparison of adult height between patients with XX and YX gonadal dysgenesis support for a Y specific growth gene(s). J Med Genet 1992;29:539-41.","journal-title":"J Med Genet"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1007\/BF00291764","article-title":"A synopsis of the human Y chrornnosome","volume":"55","author":"Buhler, E.M.","year":"1980","unstructured":"Buhler EM. A synopsis of the human Y chrornnosome. Hum Genet 1980;55:145-75.","journal-title":"Hum Genet"},{"key":"ref_25","first-page":"59","article-title":"Cloning the mammalian sex-determining gene, TDF. In: Genome analysis. Vol 3. Genes and phenotypes. Newv","author":"Goodfellow, P.N.; Hawkins, JR, Sinclair; A.H.","year":"1991","unstructured":"Goodfellow PN, Hawkins JR, Sinclair AH. Cloning the mammalian sex-determining gene, TDF. In: Genome analysis. Vol 3. Genes and phenotypes. Newv York: Cold Spring Harbor Laboratory Press, 1991:59-777."},{"key":"ref_26","article-title":"Conntiguous gene syndromes due to deletions in the distal shoDrt arm","volume-title":"of the human X chromosome. Proc Natl Acaid Sci USA et sequences","author":"Ballabio, A.; Bardoni, B.; Carrozzo, R.","year":"1979","unstructured":"Ballabio A, Bardoni B, Carrozzo R, et al. Conntiguous gene syndromes due to deletions in the distal shoDrt arm of the human X chromosome. Proc Natl Acaid Sci USA et sequences. Paris: Theraplix, 1979."},{"key":"ref_27","first-page":"145","volume-title":"The genetics of size and shape in children and","author":"Mueller, W.H.","year":"1985","unstructured":"Mueller WH. The genetics of size and shape in children and adults. In: Falkner F, Tanner JM, eds. Human growth. 2nd ed. New York: Plenum, 1985:145-68.","edition":"2nd ed"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"2377","DOI":"10.1002\/j.1460-2075.1988.tb03082.x","article-title":"A physical map of the human pseudoautosomal region","volume":"7","author":"Brown, W.R.A.","year":"1988","unstructured":"Brown WRA. A physical map of the human pseudoautosomal region. EMBO J 1988;7:2377-85.","journal-title":"EMBO J"},{"key":"ref_29","first-page":"10001","article-title":"Patients with deletions within the pseudoautosomal region help map 13 new pseudoautosomal probes","volume":"86","author":"Rappold, G.A.; Henke, A.; Klink, A.","year":"1989","unstructured":"Rappold GA, Henke A, Klink A, et al. Patients with deletions within the pseudoautosomal region help map 13 new pseudoautosomal probes. Cytogenet Cell Genet 1989;86: 10001-5.","journal-title":"Cytogenet Cell Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.29.9.624","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:25:54Z","timestamp":1760772354000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.29.9.624"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,9]]},"references-count":29,"journal-issue":{"issue":"9","published-online":{"date-parts":[[1992,9,1]]},"published-print":{"date-parts":[[1992,9]]}},"alternative-id":["10.1136\/jmg.29.9.624"],"URL":"https:\/\/doi.org\/10.1136\/jmg.29.9.624","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1992,9]]}}}