Bojko M (1985) Human meiosis IX. Crossing over and chiasma formation in oocytes. Carlsberg Res Commun 50:43–72
Boyd Y, Cockburn D, Holt S, Munro E, Van Ommen GJ, Gillard B, Affara N, Ferguson-Smith M (1988) Mapping of 12 translocation breakpoints in the Xp21 region with respect to the locus for Duchenne muscular dystrophy. Cytogenet Cell Genet 48:28–34
Chandley AC (1986) A model for effective pairing and recombination at meiosis based on early replicating sites (R bands) along chromosomes. Hum Genet 72:50–57
Couturier J, Dutrillaux B (1983) Replication studies and demonstration of position effect in rearrangements involving the human X chromosome. In: Sandberg AA (ed) Cytogenetics of the mammalian X chromosome, part A: Basic mechanisms of X chromosome behavior. Liss, New York, pp 375–403
Grass FS, Schwartz RP, Deal JO, Parke JC Jr (1981) Gonadal dysgenesis, intra-X chromosome insertion, and possible position effect in an otherwise normal female. Clin Genet 20:28–35
Hultén M (1974) Chiasma distribution at diakinesis in the normal human male. Hereditas 76:55–78
Keitges EA, Palmer CG, Weaver (1982) Pericentric X inversion in dizygotic twins who differ in X chromosome inactivation and menstrual cycle function. Hum Genet 62:210–213
Kuhn EM (1976) Localization by Q-banding of mitotic chiasmata in cases of Bloom's syndrome. Chromosoma 57:1–11
Madan K (1983) Balanced structural changes involving the human X: effect on sexual phenotype. Hum Genet 63:216–221
Patil SR, Bartley JA, Hanson JW (1981) Association of the X chromosomal region q11→22 and Klinefelter syndrome. Clin Genet 19:343–346
Reddy KS, Savage JRK, Papworth DG (1988) Replication kinetics of X chromosomes in fibroblasts and lymphocytes. Hum Genet 79:44–48
Sandberg AA (ed) (1983) Cytogenetics of the mammalian X chromosome, part A: Basic mechanisms of X chromosome behavior, part B: Chromosome anomalies and their clinical manifestations. Liss, New York
Sarto GE, Therman E, Patau K (1973) X inactivation in man: a woman with t(Xq-;12q+). Am J Hum Genet 25:262–270
Therman E, Susman B (1990) The similarity of phenotypic effects caused by Xp and Xq deletions in the human female: a hypothesis. Hum Genet 85:175–183
Allderdice PW, Miller OJ, Miller DA, Klinger HP (1978) Spreading of inactivation in an (X;14) translocation. Am J Med Genet 2:233–240
Barnabei VM, Wyandt HE, Kelly TE (1981) A possible exception to the critical region hypothesis. Am J Hum Genet 33:61–66
Bartsch-Sandhoff M, Terinde R, Wiegelmann W, Scholz W (1976) Karyotyp-Phenotyp-Korrelation bei einem 46,Xdel (X)(p22)-Befund. Hum Genet 31:263–270
Bawle E, Tyrkus M, Lipman S, Bozimowski D (1984) Aarskog syndrome: full male and female expression associated with an X-autosome translocation. Am J Med Genet 17:595–602
Biemont MC, Laurent C, Couturier J, Dutrillaux B (1978) Chronologie de la réplication des bandes des chromosomes sexuels dans les lymphocytes de sujets normaux et anormaux. Ann Génét (Paris) 21:133–141
Bjerglund Nielsen L, Nielsen I-M (1984) Turner's syndrome and Duchenne muscular dystrophy in a girl with an X; autosome translocation. Ann Génét (Paris) 27:173–177
Boué A, Gallano P (1984) A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses. Prenat Diagn 4:45–67
Buckton KE, Jacobs PA, Rae LA, Newton MS, Sanger R (1971) An inherited X-autosome translocation in man. Ann Hum Genet 35:171–178
Buhler EM, Jurik LP, Voyame M, Buhler UK (1977) Presumptive evidence of two active X chromosomes in somatic cells of a human female. Nature 265:142–144
Callen DF, Sutherland GR (1986) Normal female carrier and affected male half-sibs with t(X;5)(q13;p15). Clin Genet 30:59–62
Cann HM, Sakaguchi S, Stone J, Gold E, Luzzatti L (1975) Familial X autosome translocation (X;21). Am J Hum Genet 27:23A
Cantú JM, Díaz M, Möller M, Jiménez-Sáinz M, Sandoval L, Vaca G, Rivera H (1985) Azoospermia and duplication 3qter as distinct consequences of a familial t(X;3)(q26;q13.2). Am J Med Genet 20:677–684
Carpenter NJ, Say B, Browning D (1980) Gonadal dysgenesis in a patient with an X;3 translocation: case report and review. J Med Genet 17:216–221
Cervenka J, Djavadi GR, Gorlin RJ (1976) Partial trisomy 4q syndrome: case report and review. Hum Genet 34:1–7
Clarke G, Stevenson AC, Davies P, Williams CE (1964) A family apparently showing transmission of a translocation between chromosome 3 and one of the ‘X-6–12’ or ‘C’ group. J Med Genet 1:27–34 and Pearson PL, Witterland WF, Khan PM, Witt J de, Bobrow M (1978) Reinvestigation of two X/ autosome translocations: segregation in cell hybrids. Cytogenet Cell Genet 22:534–537
Couturier J, Dutrillaux B, Garber P, Raoul O, Croquette M-F, Fourlinnie JC, Maillard E (1979) Evidence for a correlation between late replication and autosomal gene inactivation in a familial translocation t(X;21). Hum Genet 49:319–326
Daniel A, Hook EB, Wulf G (1989) Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. Am J Med Genet 31:14–53
Davis JR, Heine MW, Graap RF, Lightner ES, Giles HR (1976) X short-arm deletion gonadal dysgenesis in two sibs. Birth Defects 12:137–138
Chapelle A de la, Schröder J (1973) Apparently non-reciprocal balanced human (3q-;Xq+) translocation: late replication of structurally normal X. In: Wahrman J, Lewis KR (eds) Chromosomes today, vol 4. Wiley, New York, pp 261–265 and Hellkuhl B, Chapelle A de la, Grzeschik K-H (1982) Different patterns of X chromosome inactivity in lymphocytes and fibroblasts of a human balanced X; autosome translocation. Hum Genet 60:126–129
Dewald GW, Spurbeck JL (1983) Sex chromosome anomalies associated with premature gonadal failure. Semin Reprod Endocrinol 1:79–92
Diedrich U, Hansmann I (1985) A familial X-autosome translocation with the breakpoint in the “critical region”. Hum Genet 70:281–283
Disteche CM, Swisshelm K, Forbes S, Pagon RA (1984) X-inactivation pattern in lymphocytes and skin fibroblasts of three cases of X-autosome translocations with abnormal phenotypes. Hum Genet 66:71–76
Dorus E, Amarose AP, Tredway DR, Reale FR, Hatch R, Serrano LF (1979) A reciprocal translocation (X;11) in a female with gonadal dysgenesis. Clin Genet 16:253–259
Dutrillaux B, Laurent C, Gilgenkrantz S, Frédéric J, Carpentier S, Couturier J, Lejeune J (1974) Les translocations du chromosome X. Etude après traitement par le BUDR et coloration par l'acridine orange. Helv Paediatr Acta [Suppl] 34:19–31 and Gilgenkrantz S, Mauuary G, Dutrillaux B, Masocco G (1975) Translocation X sur autosome et replication tardive. A propos d'une observation avec étude des X en autoradiographic et après traitement au BUDR. Humangenetik 26:25–34
Festa B, Stabile M, Tollis G de, Gentile G, Perone L, Bianco A, Colantoni M, Castris L de (1984) A case of de novo X/1 (q21;q44) balanced translocation. Acta Med Auxol 16:205–209
Filippi G, Pecile V, Archidiacono N, Baragino E, Auber G, Rocchi M (1983) X chromosome replication patterns in a case of X;9 balanced translocation. J Med Genet 20:467–468
Forabosco A, Giorgi L, Formica A, Tarantino E, Dallapiccola B (1979) Ovarian dysfunction in balanced X-autosome translocations: report of two cases involving band Xq21. Ann Génét (Paris) 22:11–16 and Lejeune J (personal communication)
Fournier JP, Gagnaire JC, Noël B (1981) Aménorrhée secondaire et translocation entre les chromosomes X et 1. Importance du niveau de cassure. J Gynecol Obstet Biol Reprod (Paris) 10:573–578
Fraccaro M, Maraschio P, Pasquali F, Scappaticci S (1977) Women heterozygous for deficiency of the (p21→pter) region of the X chromosome are fertile. Hum Genet 39:283–292
Francke U, Busby N, Shaw D, Hansen S, Brown MG (1976) 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. Somat Cell Genet 2:27–40
Frantz J, Noël B (1975) Dysgénésie ovarienne par translocation familiale, X sur autosome. Alternance de l'inactivation du chromosome X. Rev Fr Endocrinol Clin 16:445–453
Gaál M, Lászlo J (1977) X inactivation pattern in an unbalanced X-autosome translocation with gonadal dysgenesis. Hum Hered 27:396–402
Garcia JE, Cummings DK, Wentz AC, Jones HW Jr, Rary JM (1977) A 5/X chromosomal translocation in a patient with premature menopause. J Hered 68:75–80
García-Sagredo JM, Lozano C, Ferrando P, San Román C (1984) Mentally retarded siblings with congenital heart defect, peculiar facies and cryptorchidism in the male: possible McDonough syndrome with coincidental (X;20) translocation. Clin Genet 26:117–124
Gardner HA, McConnon JK, MacKenzie MA (1983) An X;9 translocation, primary amenorrhea, and hypothalamic dysfunction. Am J Med Genet 14:647–656
Gilgenkrantz S, Tridon P, Pinel-Briquel N, Beurey J, Weber M (1985) Translocation (X;9)(p11;q34) in a girl with incontinentia pigmenti (IP): implications for the regional assignment of the IP locus to Xp11? Ann Génét (Paris) 28:90–92
Greenstein RM, Reardon MP, Chan TS, Middleton AB, Mulivor RA, Greene AE, Coriell LL (1980) A (X;11) translocation in a girl with Duchenne muscular dystrophy. Cytogenet Cell Genet 27:268
Hagemeijer A, Hoovers J, Smit EME, Bootsma D (1977) Replication pattern of the X chromosomes in three X/autosomal translocations. Cytogenet Cell Genet 18:333–348
Hagen CB van der, Molne K (1978) An X-autosome translocation in a girl with gonadal dysgenesis. Clin Genet 13:118
Haseltine FP, Lynch VA, Van Dyke DL, Breg WR, Francke U (1982) H-Y antigen expression in patients with X-autosomal translocations and gonadal dysgenesis. Am J Med Genet 13:115–123
Hens L, Devroey P, Van Waesberghe L, Bonduelle M, Van Steirteghem AC, Liebaers I (1989) Chromosome studies and fertility treatment in women with ovarian failure. Clin Genet 36:81–91
Jacobs PA, Buckton KE, Cunningham C, Newton M (1974) An analysis of the break points of structural rearrangements in man. J Med Genet 11:50–64 [as cited in 13]
Ji X-W, Chen X-Y, Tan J, Liang H (1988) Balanced X;15 translocation 46,X,t(X;15)(q21;q23) associated with primary amenorrhea. Am J Med Genet 31:783–786
Kallio H (1973) Cytogenetic and clinical study of 100 cases of primary amenorrhea. Acta Obstet Gynecol Scand 24 [Suppl]:1–78
Kaplan J, Gilgenkrantz S, Dufier JL, Frézal J (1989) Choroideremia and ovarian dysgenesis associated with an X;7 de novo balanced translocation (abstract). (10th International Workshop on Human Gene Mapping) Cytogenet Cell Genet 51:1022
Keitges EA, Palmer CG (1982) Analysis of the replication patterns of four X-autosome translocations utilizing the high resolution RBG technique. Am J Hum Genet 34:131A
Kleczkowska A, Fryns JP, Vinken L, Berghe H van den (1985) Effect of balanced X/autosome translocations on sexual and physical development. Clin Genet 27:147–152
Latt SA, Willard HF, Gerald PS (1976) BrdU-33258 Hoechst analysis of DNA replication in human lymphocytes with supernumerary or structurally abnormal X chromosomes. Chromosoma 57:135–153
Leddet-Chevallier I, Reid RA, Carrel RE, Sparkes RS (1981) Balanced reciprocal (X;9) translocation in a girl with primary amenorrhea. Ann Génét (Paris) 24:162–164
Leichtman DA, Schmickel RD, Gelehrter TD, Judd WJ, Woodbury MC, Meilinger KL (1978) Familial Turner syndrome. Ann Intern Med 89:473–476
Leisti JT, Kaback MM, Rimoin DL (1975) Human X-autosome translocations: differential inactivation of the X chromosome in a kindred with an X-9 translocation. Am J Hum Genet 27:441–453
Lejeune J, Dutrillaux B, Rethoré M-O, Prieur M, Couturier J, Carpentier S, Raoul O (1973) Analysis of 30 cases of translocation by the controlled heat denaturation. In: Pfeiffer RA (ed) Modern aspects of cytogenetics: constitutive heterochromatin in man. Schattauer, Stuttgart New York, pp 191–200
Lucas M, Smithies A (1973) Banding patterns and autoradiographic studies of cells with an X-autosome translocation. Ann Hum Genet 37:9–12
Madan K, Hompes PGA, Schoemaker J, Ford CE (1981) Xautosome translocation with a breakpoint in Xq22 in a fertile woman and her 47,XXX infertile daughter. Hum Genet 59:290–296
Mann JD, Valdmanis A, Capps SC, Puite RH (1965) A case of primary amenorrhea with a translocation involving chromosomes of groups B and C. Am J Hum Genet 17:377–383 and Mann JD, Higgins J (1974) A case of primary amenorrhea associated with X-autosomal translocation [46,X,t(Xq-;5q+)]. Am J Hum Genet 26:416
Maraschio P, Fraccaro M (1982) X chromosome abnormalities and female fertility. In: Crosignani PG, Rubin BL (eds) Genetic control of gamete production and function. Academic Press, London Toronto Sydney, pp 275–285
Mariani R, Lambert J-C, Krebs B, Depaz G, Ayraud N (1980) Dysgénésie ovarienne pure par translocation t(X;3)(q21;q12). Ann Pédiatr (Paris) 27:129–132
Markovic VD, Cox DW, Wilkinson J (1985) X;14 translocation: an exception to the critical region hypothesis on the human X-chromosome. Am J Med Genet 20:87–96
Mashkova MV, Verlinskaya DK (1976) Familial X-autosomal translocation t(X;2). Tsitologiia 18:901–905
Mattei MG, Mattei JF, Ayme S, Giraud F (1982) X-autosome translocations: cytogenetic characteristics and their consequences. Hum Genet 61:295–309
Mattei MG, Mattei JF, Ayme S, Malpuech G, Giraud F (1978) A dynamic study in two new cases of X chromosome translocations. Hum Genet 41:251–257 and for breakpoint, Mattei M-G, Mattei J-F, Vidal I, Giraud F (1980) Advantages of silver staining in seven rearrangements of acrocentric chromosomes, excluding Robertsonian translocations. Hum Genet 54:365–370
Mijin K, Adšić S, Marković S, Sulović V (1981) Translocation X;9(q24;q34) in a girl with oligomenorrhea. Clin Genet 19:523
Morichon-Delvallez N, Couturier J, Frison B (1982) Phénotype atténué de la trisomie 4p par translocation t(X;4)(p21.2;p13). Ann Génét (Paris) 25:246–248
Opitz JM, DeMars RI, Inhorn SL, Elejalde BR (1978) Follow-up on a human X-autosome translocation first studied in 1963 and 1964. Birth Defects 14:365–375
Palmer C, Nance W, Cleary R, Dexter R (1973) Structural abnormalities of the X-chromosome in pure gonadal dysgenesis. Am J Hum Genet 25:57A
Palmer CG, Hubbard TW, Henry GW, Weaver DD (1980) Failure of X inactivation in the autosomal segment of an X/A translocation. Am J Hum Genet 32:179–187
Palmer CG (personal communication)
Patel U, Riddle L, Babu A, Penchaszadeh VB, Szlachter N (1989) Premature menopause in a female with an X/autosome translocation, 46,X,t(X;8)(q21;q24.3). Am J Hum Genet 45:A86
Pearson PL, Linden AGJM van der, Hagemeijer A (1974) Localization of gene markers to regions of the human X chromosome by segregation of X-autosome translocations in somatic cell hybrids. Birth Defects 10:136–142
Périssel B, Geneix A, Mage G, Charbonné F, Bruhat M, Malet P (1984) Gonadal dysgenesis due to an Xq-;15q+ translocation. Rev Bras Genet 7:799–804
Phelan JP, Upton RT, Summitt RL (1977) Balanced reciprocal X-4 translocation in a female patient with early secondary amenorrhea. Am J Obstet Gynecol 129:607–613
Plessis C, Couturier J, Turleau C, Despoisses S, Delavenne J (1985) “Pure” partial trisomy 2q in a male owing to malsegregation of a maternal translocation t(X;2)(p22.3;q32.1). J Med Genet 22:70–73
Quack B, Speed RM, Luciani JM, Noel B, Guichaoua M, Chandley AC (1988) Meiotic analysis of two human reciprocal X-autosome translocations. Cytogenet Cell Genet 48:43–47
Rivera H, Enríquez-Guerra MA, Rolón A, Jiménez-Sáinz ME, Núñez-González L, Cantú JM (1986) Whole-arm t(X;17) (Xp17q;Xq17p) and gonadal dysgenesis. Clin Genet 29:425–428
Rudak E, Mayer M, Jacobs P, Sprenkel J, Do T, Migeon B (1979) X/11 translocation; replication and mapping studies. Cytogenet Cell Genet 25:199–200
Sands ME (1980) Mental retardation in association with a balanced X-autosome translocation and random inactivation of the X chromosomes. Clin Genet 17:307–316
Sarto GE, Therman E, Patau K (1973) X inactivation in man: a woman with t(Xq-;12q+). Am J Hum Genet 25:262–270
Sauer F, Greenstein RM, Reardon P, Riddick DH (1977) Secondary amenorrhea associated with balanced X-autosome translocation. Obstet Gynecol 49:101–104
Siu VM, Gonder JR, Sergovich FR, Flintoff WF (1988) Choroideremia associated with an X-autosomal translocation. Am J Hum Genet 43:A96
Summitt RL, Martens PR, Wilroy RS Jr (1974) X-autosome translocation in normal mother and effectively 21-monosomic daughter. J Pediatr 84:539–546
Thorburn MJ, Martin PA, Pathak UN (1970) Possible X/autosomal translocation in a girl with gonadal dysgenesis. J Med Genet 7:402–406
Turleau C, Chavin-Colin F, Grouchy J de, Repessé G, Beauvais P (1977) Familial t(X;2)(p223;q323) with partial trisomy 2q and male and female balanced carriers. Hum Genet 37:97–104
Van Dyke DL, Weiss L, Abraham JP, Ghosh P (1977) Replication studies in X chromosome abnormalities. Am J Hum Genet 29:109A and Van Dyke DL (personal communication)
Verellen-Dumoulin C, Freund M, De Meyer R, Laterre C, Frédéric J, Thompson MW, Markovic VD, Worton RG (1984) Expression of an X-linked muscular dystrophy in a female due to translocation involving Xp21 and non-random inactivation of the normal X chromosome. Hum Genet 67:115–119
Wegner R-D (1982) Translocation t(X;1) and the “critical region hypothesis”. Hum Genet 61:79
Williams J, Dear PRF (1987) An unbalanced t(X;10) mat translocation in a child with congenital abnormalities. J Med Genet 24:633
Yamamoto Y, Endo Y, Kuroki Y (1979) A case of partial trisomy 17 resulting from X-autosomal translocation. J Med Genet 16:395–399
Zabel BU, Baumann WA, Pirntke W, Gerhard-Ratschow K (1978) X-inactivation pattern in three cases of X/autosome translocation. Am J Med Genet 1:309–317
Boué A, Gallano (1984) A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses. Prenat Diagn 4:45–67
Buckton KE, Newton MS, Collyer S, Lee M, Spowart G, Seabright M, Sanger R (1981) Phenotypically normal individuals with an inversion (X) (p22q13) and the recombinant (X), dup q. Ann Hum Genet 45:159–168
Cerrillo M, Varela M (1986) Random X inactivation patterns in a patient with a pericentric inversion of the X-chromosome. Am J Hum Genet 39:A108
Daniel A, Hook EB, Wulf G (1989) Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. Am J Med Genet 31:14–53
Duckett DP, Young ID (1988) A recombinant X chromosome in a short statured girl resulting from a maternal pericentric inversion. Hum Genet 79:251–254
Groupe de Cytogénéticiens Français (1986) Pericentric inversions in man. A French collaborative study. Ann Génét (Paris) 29:129–168
Kardon NB, Bronson R, Davis JG, Broekman A, Rosenfeld D (1981) A duplication-deficiency X chromosome resulting from a maternal pericentric inversion (abstract). 6th International Congress of Human Genetics, Jerusalem 1981, p 185
Keitges EA, Palmer CG, Weaver DD (1982) Pericentric X inversion in dizygotic twins who differ in X chromosome inactivation and menstrual cycle function. Hum Genet 62:210–213
Maeda T, Ohno M, Takada M, Nishida M, Tsukioka K, Tomita H (1979) Turner's syndrome with a duplication-deficiency X chromosome derived from a maternal pericentric inversion X chromosome. Clin Genet 15:259–266
McLaughlin CJ, Dunn SA, Thayer BA, Miller WA (1987) Familial inv(X) identified through a prenatal diagnostic study. Am J Hum Genet 41:A133
Mohandas T, Geller RL, Yen PH, Rosendorff J, Bernstein R, Yoshida A, Shapiro LJ (1986) Cytogenetic and molecular studies on a recombinant human X chromosome: implications for the spreading of X-chromosome inactivation. Am J Hum Genet 39:A126 and Rosendorff J, Bernstein R (1989) Cytogenetic evidence for a putative hotspot for recombination within the pseudoautosomal region of the X-chromosome. Am J Hum Genet 45:A89
Neu RL, Brar HS, Koos BJ (1988) Prenatal diagnosis of inv(X)(q12q28) in a male fetus. J Med Genet 25:52–53
Niebuhr E, Seemanová E, Lošsan F (1974) Familiární výskyt pericentrické inverze X chromosomu. Cesk Pediatr 29:245–247
Nikoliš J, Stolević E (1978) Recombinant chromosome as a result of pericentric inversion of X chromosome. Hum Genet 45:115–122
Shabtai F, Klar D, Zohar I, Halbrecht I (1983) Paracentric inversion in the long arm of chromosome X. Clin Genet 23:245–246
Soler A, Salami C, Balmes I, Carrio A, Tejada I, Farguell T, Cols N, Cararach J, Fortuny A (1981) Pericentric X chromosome in a family. Clin Genet 20:234–235
Wyandt HE, Willson KA, Wilks JW, Chamberlain RR, Pelish TL, Kelly TE (1982) 47,XX,i(Xq) with premature ovarian failure and paracentric inversion of Xq with gonadal dysgenesis. Am J Hum Genet 34:151A