{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,7]],"date-time":"2025-10-07T00:06:42Z","timestamp":1759795602123,"version":"build-2065373602"},"reference-count":43,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1980,6]]},"abstract":"<jats:p>A patient with primary amenorrhoea and absence of secondary sex characteristics was found to have a balanced X;3 translocation. This phenotype is reported in approximately one-third of the balanced X;autosome translocation cases. The normal X chromosome is inactive in the present case which is in agreement with most of the similar cases. A review of the 66 balanced X;autosome translocations reported to date is presented.<\/jats:p>","DOI":"10.1136\/jmg.17.3.216","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"216-221","source":"Crossref","is-referenced-by-count":17,"title":["Gonadal dysgenesis in a patient with an X;3 translocation: case report and review."],"prefix":"10.1136","volume":"17","author":[{"given":"N J","family":"Carpenter","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B","family":"Say","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D","family":"Browning","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1980,6,1]]},"reference":[{"key":"ref_1","first-page":"25","article-title":"Sur quatre nouveau cas de translocation du chromosome X chez 1'homme","volume":"26","author":"Laurent, C.; Biemont, M.C.","year":"1975","unstructured":"Laurent C, Biemont MC. Sur quatre nouveau cas de translocation du chromosome X chez 1'homme. Hum Genet 1975;26:25-46.","journal-title":"Hum Genet"},{"key":"ref_2","first-page":"14","article-title":"Demonstration of a spreading effect in an X-autosome translocation by combined autoradiographic and quinacrine-fluorescent studies","volume":"233","author":"Allderdice, P.W.; Miller, O.J.; Klinger, H.P.; Pallister, P.D.; Opitz, J.M.","year":"1971","unstructured":"Allderdice PW, Miller OJ, Klinger HP, Pallister PD, Opitz JM. Demonstration of a spreading effect in an X-autosome translocation by combined autoradiographic and quinacrine-fluorescent studies. Excerpta Medica Int Cong Ser 1971;233:14.","journal-title":"Excerpta Medica Int Cong Ser"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1007\/BF00270856","article-title":"Karyotyp-phenotyp-correlation bei einem 46, X del(X)(p22)-befund","volume":"31","author":"Bartsch-Sandhoff, M.; Terinde, R.; Wiegelmann, W.; Scholz, W.","year":"1976","unstructured":"Bartsch-Sandhoff M, Terinde R, Wiegelmann W, Scholz W. Karyotyp-phenotyp-correlation bei einem 46,X del(X)(p22)-befund. Hum Genet 1976;31:263-70.","journal-title":"Hum Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1111\/j.1469-1809.1956.tb01390.x","article-title":"An inherited X-autosome translocation in man","volume":"35","author":"Buckton, K.E.; Jacobs, P.A.; Rae, L.A.; Newton, M.S.; Sanger, R.","year":"1971","unstructured":"Buckton KE, Jacobs PA, Rae LA, Newton MS, Sanger R. An inherited X-autosome translocation in man. Ann Hum Genet 1971;35:171-8.","journal-title":"Ann Hum Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1038\/265142a0","article-title":"Presumptive evidence of two active X chromosomes in somatic cells of a human female","volume":"265","author":"Buhler, E.M.; Jurik, L.P.; Voyame, M.; Buhler, U.K.","year":"1977","unstructured":"Buhler EM, Jurik LP, Voyame M, Buhler UK. Presumptive evidence of two active X chromosomes in somatic cells of a human female. Nature 1977;265:142-3.","journal-title":"Nature"},{"key":"ref_6","first-page":"35","article-title":"Dystrophie musculaire de Duchenne chez une petite fille porteuse d'une translocation t(X; 3)(p21; ql3) de novo","volume":"22","author":"Canki, N.; Dutrillaux, B.; Tivadar, I.","year":"1979","unstructured":"Canki N, Dutrillaux B, Tivadar I. Dystrophie musculaire de Duchenne chez une petite fille porteuse d'une translocation t(X;3)(p21;ql3) de novo. Ann Genet (Paris) 1979;22:35-9.","journal-title":"Ann Genet (Paris)"},{"key":"ref_7","first-page":"583","article-title":"Two human X-autosome translocations identified by autoradiography and fluorescence","volume":"24","author":"Cohen, M.M.; Lin, C.C.; Sybert, V.; Orecchio, E.J.","year":"1972","unstructured":"Cohen MM, Lin CC, Sybert V, Orecchio EJ. Two human X-autosome translocations identified by autoradiography and fluorescence. Am J Hum Genet 1972;24:583-97.","journal-title":"Am J Hum Genet"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1111\/j.1399-0004.1976.tb00034.x","article-title":"X-short arm deletion gonadal dysgenesis in 2 siblings due to unique translocation (Xp-,16q+)","volume":"10","author":"Davis, JR, Heine; MW, Lightner; ES, Giles; HR, Graap; R.F.","year":"1976","unstructured":"Davis JR, Heine MW, Lightner ES, Giles HR, Graap RF. X-short arm deletion gonadal dysgenesis in 2 siblings due to unique translocation (Xp-,16q+). Clin Genet 1976;10:202-7.","journal-title":"Clin Genet"},{"key":"ref_9","first-page":"261","article-title":"Apparently non-reciprocal balanced human (3q-; Xq+) translocation: late replication of structurally normal","volume":"4","author":"de la Chapelle A; J, Schroeder","year":"1973","unstructured":"de la Chapelle A, Schroeder J. Apparently non-reciprocal balanced human (3q-;Xq+) translocation: late replication of structurally normal X. In: Wahrman J, Lewis KR, eds. Chromosomes today. vol 4. New York: Wiley, 1973:261-6.","journal-title":"Chromosomes today"},{"key":"ref_10","first-page":"\"3324","article-title":"Sterilite et translocation familiale t(lq-; Xq+)","volume":"274","author":"Dutrillaux, B.; Couturier, J.; Rotman, J.; Salat, J.; Lejeune, J.","year":"1972","unstructured":"Dutrillaux B, Couturier J, Rotman J, Salat J, Lejeune J. Sterilite et translocation familiale t(lq-;Xq+). C R Acad Sci (D) (Paris) 1972;274:3324-7. l Dutrillaux B, Laurent C, Gilgenkrantz S, Frederic J, Carpentier S, Couturier J, Lejeune J. Les translocations du chromosome X. Etude apres traitment par le BUDR et coloration l'acridine orange. Helv Paediatr Acta 1974; 34 (suppl): 19-31.","journal-title":"C R Acad Sci (D) (Paris); Les translocations du chromosome X. Etude apres traitment par le BUDR et coloration l'acridine orange"},{"issue":"1","key":"ref_11","first-page":"1","article-title":"Ovarian dysfunction in balanced Xautosome translocations: report of two cases involving band Xq2l","volume":"22","author":"Forabosco, A.; Giorgi, L.; Formica, A.; Tarantino, E.; Dallapiccola, B.","year":"1979","unstructured":"Forabosco A, Giorgi L, Formica A, Tarantino E, Dallapiccola B. Ovarian dysfunction in balanced Xautosome translocations: report of two cases involving band Xq2l. Ann Genet (Paris) 1979;22:1 1-6.","journal-title":"Ann Genet (Paris)"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1007\/BF00295421","article-title":"Women heterozygous for deficiency of the (p21-+ pter) region of the X chromosome are fertile","volume":"39","author":"Fraccaro, M.; Maraschio, P.; Pasquali, F.; Scappaticci, S.","year":"1977","unstructured":"Fraccaro M, Maraschio P, Pasquali F, Scappaticci S. Women heterozygous for deficiency of the (p21-+ pter) region of the X chromosome are fertile. Hum Genet 1977;39:283-92.","journal-title":"Hum Genet"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1007\/BF01539240","article-title":"Intrachromosomal gene mapping in man: assignment of nucleoside phosphorylase to region 14cen-14q21 by interspecific hybridization of cells with a t(X; 14) (p22; q21) translocation","volume":"2","author":"Francke, U.; Busby, N.; Shaw, D.; Brown, M.G.","year":"1976","unstructured":"Francke U, Busby N, Shaw D, Brown MG. Intrachromosomal gene mapping in man: assignment of nucleoside phosphorylase to region 14cen-14q21 by interspecific hybridization of cells with a t(X;14) (p22;q21) translocation. Somatic Cell Genet 1976;2:27-40.","journal-title":"Somatic Cell Genet"},{"key":"ref_14","first-page":"445","article-title":"Dysg6n6sie ovarienne par translocation familiale, X sur autosome. Alterance de l'inactivation du chromosome X","volume":"16","author":"Frantz, J.; Noel, B.","year":"1975","unstructured":"Frantz J, Noel B. Dysg6n6sie ovarienne par translocation familiale, X sur autosome. Alterance de l'inactivation du chromosome X. Rev Fr Endocrinol Clin 1975;16:445-53.","journal-title":"Rev Fr Endocrinol Clin"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1159\/000152900","article-title":"X inactivation pattern in an unbalanced X-autosome translocation with gonadal dysgenesis","volume":"27","author":"Gaal, M.; Laszlo, J.","year":"1977","unstructured":"Gaal M, Laszlo J. X inactivation pattern in an unbalanced X-autosome translocation with gonadal dysgenesis. Hum Hered 1977;27:396-402.","journal-title":"Hum Hered"},{"key":"ref_16","first-page":"344","article-title":"Location of genes on the X chromosome by somatic cell hybridization","volume":"7","author":"Gerald, P.S.; Burns, G.; Monedjikova, V.","year":"1973","unstructured":"Gerald PS, Burns G, Monedjikova V. Location of genes on the X chromosome by somatic cell hybridization. Pediatr Res 1973;7:344.","journal-title":"Pediatr Res"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1007\/BF00280282","article-title":"Translocation X sur autosome et replication tardive","volume":"26","author":"Gilgenkrantz, S.; Mauuary, G.; Dutrillaux, B.; Masocco, G.","year":"1975","unstructured":"Gilgenkrantz S, Mauuary G, Dutrillaux B, Masocco G. Translocation X sur autosome et replication tardive. Hum Genet 1975;26:25-34.","journal-title":"Hum Genet"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1159\/000130780","article-title":"Replication pattern of the X chromosomes in three X\/autosomal translocations","volume":"18","author":"Hagemeijer, A.; Hoovers, J.; Smit, E.M.; Bootsma, D.","year":"1977","unstructured":"Hagemeijer A, Hoovers J, Smit EM, Bootsma D. Replication pattern of the X chromosomes in three X\/autosomal translocations. Cytogenet Cell Genet 1977;18:333-48.","journal-title":"Cytogenet Cell Genet"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1136\/jmg.11.1.50","article-title":"An analysis of the break points of structural rearrangements in man","volume":"11","author":"Jacobs, P.A.; Buckton, K.E.; Cunningham, C.; Newton, M.","year":"1974","unstructured":"Jacobs PA, Buckton KE, Cunningham C, Newton M. An analysis of the break points of structural rearrangements in man. JMed Genet 1974;11:50-64.","journal-title":"JMed Genet"},{"key":"ref_20","first-page":"736","article-title":"A familial X-22 translocation with an extra X chromosome","volume":"26","author":"Jenkins, M.B.; Davis, E.; Thelen, T.H.; Boyd, L.","year":"1974","unstructured":"Jenkins MB, Davis E, Thelen TH, Boyd L. A familial X-22 translocation with an extra X chromosome. Am J Hum Genet 1974;26:736-45.","journal-title":"Am J Hum Genet"},{"key":"ref_21","first-page":"1","article-title":"Cytogenetic and clinical study of 100 cases of primary amenorrhea","volume":"24","author":"Kallio, H.","year":"1973","unstructured":"Kallio H. Cytogenetic and clinical study of 100 cases of primary amenorrhea. Acta Obstet Gynecol Scand (Suppl) 1973;24:1-78.","journal-title":"Acta Obstet Gynecol Scand (Suppl)"},{"key":"ref_22","first-page":"441","article-title":"Human X-autosome translocations: differential inactivation of the X chromosome in a kindred with an X-9 translocation","volume":"27","author":"Leisti, J.T.; Kaback, M.M.; Rimoin, D.L.","year":"1975","unstructured":"Leisti JT, Kaback MM, Rimoin DL. Human X-autosome translocations: differential inactivation of the X chromosome in a kindred with an X-9 translocation. Am J Hum Genet 1975;27:441-53.","journal-title":"Am J Hum Genet"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1111\/j.1469-1809.1973.tb01809.x","article-title":"Banding patterns and autoradiographic studies of cells with an X-autosome translocation","volume":"37","author":"Lucas, M.; Smithies, A.","year":"1973","unstructured":"Lucas M, Smithies A. Banding patterns and autoradiographic studies of cells with an X-autosome translocation. Ann Hum Genet 1973;37:9-12.","journal-title":"Ann Hum Genet"},{"key":"ref_24","first-page":"416","article-title":"A case of primary amenorrhea associated with X-autosomal translocation","volume":"26","author":"Mann, J.D.; Higgins, J.","year":"1974","unstructured":"Mann JD, Higgins J. A case of primary amenorrhea associated with X-autosomal translocation (46,X,t (Xq-;5q+). Am JHum Genet 1974;26:416.","journal-title":"Am JHum Genet"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1203\/00006450-197804001-00544","article-title":"Presumptive evidence for the presence of 2 active X chromosomes in a balanced X-autosomal translocation","volume":"12","author":"Marshall, L.S.; Kistenmacher, M.L.; Punnett, H.H.","year":"1978","unstructured":"Marshall LS, Kistenmacher ML, Punnett HH. Presumptive evidence for the presence of 2 active X chromosomes in a balanced X-autosomal translocation. Pediatr Res 1978;12:453.","journal-title":"Pediatr Res"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1007\/BF00284758","article-title":"A dynamic study in two new cases of X chromosome translocations","volume":"41","author":"Mattei, M.G.; Mattei, J.E.; Ayme, S.; Malpuech, G.; Giraud, F.","year":"1978","unstructured":"Mattei MG, Mattei JE, Ayme S, Malpuech G, Giraud F. A dynamic study in two new cases of X chromosome translocations. Hum Genet 1978;41:251-8.","journal-title":"Hum Genet"},{"key":"ref_27","first-page":"133","article-title":"Assignment of adenosine deaminase (ADA) to the long arm of chromosome 20: cytogenetic and somatic cell studies in an X\/20 translocation","volume":"30","author":"Mohandas, T.; Miles, J.; Sparkes, R.S.; Sparkes, M.C.; Passarge, M.B.; Kaback, M.M.","year":"1978","unstructured":"9 Mohandas T, Miles J, Sparkes RS, Sparkes MC, Passarge MB, Kaback MM. Assignment of adenosine deaminase (ADA) to the long arm of chromosome 20: cytogenetic and somatic cell studies in an X\/20 translocation. Am J Hum Genet 1978;30:133A.","journal-title":"Am J Hum Genet"},{"key":"ref_28","first-page":"365","article-title":"Followup on a human X-autosome translocation first studied in 1963 and 1964","volume-title":"Sex differentiation and chromosomal abnormalities. Birth Defects: Original Article Series, 14, No 6C","author":"Opitz, J.M.; DeMars, R.I.; Inhorn, S.L.; Elejalde, B.R.","year":"1978","unstructured":"Opitz JM, DeMars RI, Inhorn SL, Elejalde BR. Followup on a human X-autosome translocation first studied in 1963 and 1964. In: Summitt RL, Bergsma D, eds. Sex differentiation and chromosomal abnormalities. Birth Defects: Original Article Series, 14, No 6C. New York: Alan R Liss, 1978:365-75."},{"key":"ref_29","first-page":"57","article-title":"Structural abnormalities of the X chromosome in pure gonadal dysgenesis","volume":"25","author":"Palmer, C.; Nance, W.; Cleary, R.; Dexter, R.","year":"1973","unstructured":"Palmer C, Nance W, Cleary R, Dexter R. Structural abnormalities of the X chromosome in pure gonadal dysgenesis. Am JHum Genet 1973;25:57A.","journal-title":"Am JHum Genet"},{"key":"ref_30","first-page":"89","article-title":"Partial trisomy 17 resulting from t(X; 1 7) with failure of inactivation of the translocated segment of the inactive X","volume":"30","author":"Palmer, C.G.; Weaver, D.D.; Hubbard, T.; Henry, W.","year":"1978","unstructured":"Palmer CG, Weaver DD, Hubbard T, Henry W. Partial trisomy 17 resulting from t(X;1 7) with failure of inactivation of the translocated segment of the inactive X. Am J Hum Genet 1978;30:89A.","journal-title":"Am J Hum Genet"},{"issue":"4","key":"ref_31","first-page":"190","article-title":"Localization of gene markers to regions of the human X chromosome by segregation of X-autosome translocations in somatic cell hybrids","volume":"3","author":"Pearson, P.L.; van der Linden, A.G.J.M.; Hagemeijer, A.","year":"1974","unstructured":"Pearson PL, van der Linden AGJM, Hagemeijer A. Localization of gene markers to regions of the human X chromosome by segregation of X-autosome translocations in somatic cell hybrids. In: Bergsma D, ed. Human gene mapping. Birth Defects: Original Article Series, 10, No 3. New York: Intercontinental Medical Book Corp, 1974: 136-42. 3 4 Pearson PL, Sanger R, Brown JA. Report of the committee on the genetic constitution of the X chromosome. Cytogenet Cell Genet 1975;14:190-5.","journal-title":"Cytogenet Cell Genet; gene mapping. Birth Defects: Original Article Series, 10, No 3"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1016\/0002-9378(77)90640-8","article-title":"Balanced reciprocal X-4 translocation in a female with early secondary amenorrhea","volume":"129","author":"Phelan, J.P.; Upton, R.T.; Summitt, R.L.","year":"1977","unstructured":"Phelan JP, Upton RT, Summitt RL. Balanced reciprocal X-4 translocation in a female with early secondary amenorrhea. Am J Obstet Gynecol 1977;129:607-13.","journal-title":"Am J Obstet Gynecol"},{"key":"ref_33","first-page":"262","article-title":"X inactivation in man: a woman with t(Xq-; l2p+)","volume":"25","author":"Sarto, G.E.; Therman, E.; Patau, K.","year":"1973","unstructured":"Sarto GE, Therman E, Patau K. X inactivation in man: a woman with t(Xq-;l2p+). Am J Hum Genet 1973;25: 262-70.","journal-title":"Am J Hum Genet"},{"key":"ref_34","first-page":"101","article-title":"Secondary amenorrhea associated with balanced Xautosome translocation","volume":"49","author":"Sauer, F.; Greenstein, R.M.; Reardon, P.; Riddick, D.H.","year":"1977","unstructured":"7 Sauer F, Greenstein RM, Reardon P, Riddick DH. Secondary amenorrhea associated with balanced Xautosome translocation. Obstet Gynecol 1977;49:101-4.","journal-title":"Obstet Gynecol"},{"key":"ref_35","first-page":"343","article-title":"Nature of X-autosome translocation and choice of X-inactivation","volume":"7","author":"Sujansky, E.; Hsu, L.Y.; Lucas, M.; Hirschhorn, K.","year":"1973","unstructured":"Sujansky E, Hsu LY, Lucas M, Hirschhorn K. Nature of X-autosome translocation and choice of X-inactivation. Pediatr Res 1973;7:343.","journal-title":"Pediatr Res"},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1016\/S0022-3476(74)80674-8","article-title":"X-autosome translocation in normal mother and effectively 21monosomic daughter","volume":"84","author":"Summitt, R.L.; Martens, P.R.; Wilroy, R.S.","year":"1974","unstructured":"9 Summitt RL, Martens PR, Wilroy RS. X-autosome translocation in normal mother and effectively 21monosomic daughter. JPediatr 1974;84:539-46.","journal-title":"JPediatr"},{"key":"ref_37","first-page":"410","article-title":"Multiple abnormalities due to possible genetic inactivation in an X\/autosome translocation","volume":"23","author":"Thelen, T.H.; Abrams, D.J.; Fisch, R.O.","year":"1971","unstructured":"\u00b0 Thelen TH, Abrams DJ, Fisch RO. Multiple abnormalities due to possible genetic inactivation in an X\/autosome translocation. Am JHum Genet 1971; 23:410-8.","journal-title":"Am JHum Genet"},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1136\/jmg.7.4.402","article-title":"Case report. Possible X\/autosomal translocation in a girl with gonadal dysgenesis","volume":"7","author":"Thorburn, M.J.; Martin, P.A.; Pathak, U.N.","year":"1970","unstructured":"Thorburn MJ, Martin PA, Pathak UN. Case report. Possible X\/autosomal translocation in a girl with gonadal dysgenesis. J Med Genet 1970;7:402-6.","journal-title":"J Med Genet"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1007\/BF00293779","article-title":"Familial t(X; 2)(p223; q323) with partial trisomy 2q and male and female balanced carriers","volume":"37","author":"Turleau, C.; Chavin-Colin, F.; de Grouchy, J.; Repesse, G.; Beauvois, P.","year":"1977","unstructured":"Turleau C, Chavin-Colin F, de Grouchy J, Repesse G, Beauvois P. Familial t(X;2)(p223;q323) with partial trisomy 2q and male and female balanced carriers. Hum Genet 1977;37:97-104.","journal-title":"Hum Genet"},{"key":"ref_40","first-page":"118","article-title":"An X-autosome translocation in a girl with gonadal dysgenesis","volume":"13","author":"der Hagen CB, Van; K, Molne","year":"1978","unstructured":"Van der Hagen CB, Molne K. An X-autosome translocation in a girl with gonadal dysgenesis. Clin Genet 1978;13:118.","journal-title":"Clin Genet"},{"issue":"109","key":"ref_41","first-page":"7","article-title":"Replication studies in X chromosome abnormalities","volume":"29","author":"DL, Van Dyke; L, Weiss; JP, Abraham; P, Ghosh","year":"1977","unstructured":"Van Dyke DL, Weiss L, Abraham JP, Ghosh P. Replication studies in X chromosome abnormalities. Am J Hum Genet 1977;29:109A. 45 Verellen C, Marbovic V, DeMeyer R, Freund M, Laterre C, Worton R. Expression of an X-linked recessive disease in a female due to non-random inactivation of the X chromosome. Am J Hum Genet 1978;30:97A. 46 Zabel BU, Baumann, WA, Pirntke W, Gerhard-Ratschow K. X-inactivation pattern in three cases of X\/autosome translocation. Am J Med Genet 1978;1: 309-1 7. 4 7Therman E, Patau K. Abnormal X chromosomes in man: origin, behavior and effects. Hum Genet 1974;25:1-16.","journal-title":"Am J Hum Genet; Expression of an X-linked recessive disease in a female due to non-random inactivation of the X chromosome"},{"key":"ref_42","first-page":"219","article-title":"X-autosome translocation: a review","volume-title":"Sex differentiation and chromosomal abnormalities. Birth Defects: Original Article Series, 14, No 6C","author":"Summitt, R.L.; Tipton, R.E.; Wilroy, R.S.; Martens, P.R.; Phelan, J.P.","year":"1978","unstructured":"Summitt RL, Tipton RE, Wilroy RS, Martens PR, Phelan JP. X-autosome translocation: a review. In: Summitt RL, Bergsma D, eds. Sex differentiation and chromosomal abnormalities. Birth Defects: Original Article Series, 14, No 6C. New York: Alan R Liss, 1978:219-47."},{"key":"ref_43","first-page":"361","article-title":"Center for Barr body condensation on the proximal part of the human Xq: a hypothesis","volume":"44","author":"Therman, E.; Sarto, G.E.; Patau, K.","year":"1974","unstructured":"Therman E, Sarto GE, Patau K. Center for Barr body condensation on the proximal part of the human Xq: a hypothesis. Chromosoma 1974;44:361-6.","journal-title":"Chromosoma"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.17.3.216","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T03:40:56Z","timestamp":1759722056000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.17.3.216"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1980,6]]},"references-count":43,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1980,6,1]]},"published-print":{"date-parts":[[1980,6]]}},"alternative-id":["10.1136\/jmg.17.3.216"],"URL":"https:\/\/doi.org\/10.1136\/jmg.17.3.216","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1980,6]]}}}