Balanced structural changes involving the human X: Effect on sexual phenotype

Allderdice PW, Eales B (1981) Fertility in a patient with 46,X,del(X) (q21–q24). Am J Hum Genet 33: 69A 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 of X-chromosome inactivation. Am. Hum Genet 33:61–66 Bartsch-Sandoff M, Terinde R, Wiegelmann W, Scholz W (1976) Karyotyp-Phenotyp-Korrelation bei einem 46,Xdel(X)(P22)-Befund. Hum Genet 31:263–270 Biemont MC, Laurent C, Couturier J, Dutrillaux B (1978) Chronologie de la replication des bandes des chromosomes sexuels dans les lymphocytes de sujects normaux et anormaux. Ann Génét 21: 133–141 Buckton KE, Jacobs PA, Rae LA, Newton MS (1971) An inherited X-autosome translocation in man. Ann Hum Genet Lond 35:171–178 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 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 Canki N, Dutrillaux B, Tivadar I (1979) Dystrophie musculaire de Duchenne chez une petite fille porteuse d'une translocation t(X;3) (p21;q13) de novo. Ann Génét 22:35–39 Cann HM, Sakaguchi S, Stone J, Gold E, Luzzatti L (1975) Familial X-autosome translocation (X,21). Am J Hum Genet 27:23A 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 Chandley AC (1981) The origin of chromosomal aberrations in man and their potential for survival and reproduction in the adult human population. Ann Génét 24:5–11 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. John Wiley and Sons, New York, pp 261–265 Chapelle A de la, Schröder J, Haahtela T, Aro P (1975) Deletion mapping of the human X chromosome. Hereditas 80:113–120 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 Cohen MM, Lin C-C, Sybert V, Orecchio EJ (1972) Two human X-autosome translocations identified by autoradiography and fluorescence. Am J Hum Genet 24:583–597 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 Cross HE, Hansen RC, Morrow G, Davis JR (1977) Retinoblastoma in a patient with a 13qXp translocation. Am J Ophthalmol 84: 548–554 Cuoco C, Gimelli G, Maraschio P, Pasquali F (1980) X/autosomal translocations and male sterility. Clin Genet 17:61–62 Davis JR, Heine MW, Lightner ES, Giles HR, Graap RF (1976) X-short arm deletion gonadal dysgenesis in two siblings due to unique translocation (Xp-;16p+). Clin Genet 10:202–207 Davidenkova EF, Verlinskaja DK, Mashkova MV (1978) Structural aberrations of the X chromosome in man. Hum Genet 41:269–279 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 6:253–259 Dutrillaux B, Laurent C, Gilgenkrantz S, Frederic J, Carpentier S, Couturier J, Lejeune J (1974) Les translocations du chromosome X. Etude apres traitement par le BUDR et coloration par l'acridine orange. Helv Paediatr Acta (Suppl) 34:19–31 Eicher EM (1970) X-autosome translocations in the mouse: total inactivation versus partial inactivation of the X-chromosome. Adv Genet 15:175–259 Ejima Y, Sasaki MS, Kaneko A, Tanooka H, Hara Y, Hida T, Kinoshita Y (1982) Possible inactivation of part of chromosome 13 due to 13qXp translocation associated with retinoblastoma. Clin Genet 21:357–361 Emanuel BS, Zackai EH, Tucker S (1981) Further evidence for Xp21 location of Duchenne Muscular Dystrophy (DMD) locus: X19 translocation in female with DMD. Am J Hum Genet 33: 103A Evans MI, Simpson JL, Larson JW, Martin AO, Sarto GE, Schulman JD (1980) Pericentric X chromosome ascertained during antenatal diagnosis. Clin Genet 18:30–33 Eaed MJW, Robertson J, Lamont MA, MacIntosh W, Grieve J, Baxby K, James GB, Crowder AM (1979) A cytogenetic survey of men being investigated for subfertility. J Reprod Fertil 56:209–216 Forabosco A, Giorgi L, Formica A, Tarantino E, Dallapiccola B (1979) Ovarian dysfunction in balanced X-autosome translocation: report of two cases involving band Xq21. Ann Génét 22:11–16 Fournier JP, Gagnaire JC, Noel B (1981) Secondary amenorrhea and translocation between the X and 1 chromosome. The importance of the place where the break occurs. J Gynecol Obstet Biol Reprod 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 Franke 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. Somatic Cell Genet 2:27–40 Frantz J, Noel B (1975) Dysgénésie ovarienne par translocation familiale, X sur autosome. Alternance de l'inactivation du chromosome X. Rev Franç Endocrinol Clin 16:445–453 Gaál M, László J (1977) X inactivation pattern in an unbalanced X-autosome translocation with gonadal dysgenesis. Hum Hered 27: 396–402 Garcia JE, Cumming 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 Gerald P, Bruns G, Monedjikova V (1973) Localization of genes on the X chromosome by somatic cell hybridization. Pediatr Res 7:344 German J, New MI, Archibald RM, Chaganti RSK (1976) An inherited pericentric X chromosome associated with male pseudohermaphroditis. Excerpta Medica Int Cong Series 397:126 Gilgenkrantz S, Mauuary G, Dutrillaux B, Masocco G (1975) Translocation X sur autosome et replication tardive. Humangenetik 26: 25–34 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 Greenstein RM, Reardon MP, Chan TS, Middleton AB, Mulivor RA, Greene AE, Coriell IL (1980) An (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, Berg WR, Franke U (1982) HY-antigen in cases of pure gonadal dysgenesis. Am J Med Genet 13:115–123 Hellkuhl B, Chapelle A de la, Grzeschik KH (1982) Different patterns of X chromosome inactivity in lymphocytes and fibroblasts of a human balanced X-autosome translocation.Hum Genet 60:126–129 Hida T, Kinoshita Y, Matsumoto R, Suzuki N, Tanaka H (1980) Bilateral retinoblastoma with a 13qXp translocation. J Pediatr Ophthalmol Strasbismus 17:144–146 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 Jacobs PA, Hunt PA, Mayer M, Bart RD (1981) Duchenne muscular dystrophy (DMD) in a female with an X/autosome translocation: Further evidence that DMD locus is at Xp21. Am J Hum Genet 33: 513–518 Jenkins MB, Davis E, Thelen TH, Boyd L (1974) A familial X-22 translocation with an extra X chromosome. Am J Hum Genet 26:736–745 Juberg RC, Stallard R, Hayes ML (1981) Critical region hypothesis: phenotypic prediction in a complex X;2;8 translocation. Am J Hum Genet 33:108A Kallio H (1973) Cytogenetic and clinical study of 100 cases of primary amenorrhea. Acta Obstet Gynecol Scand (Suppl) 24:7–78 Keitges EA, Palmer CG, Weaver DD (1981) Inversion inv (X) (p11q22) with breakage in the critical region. Am J Hum Genet 33:109A Kristensen H, Friedrich U, Larsen G, Therkelsen AJ (1975) Structural X-chromosome abnormality in a female with gonadal dysgenesis. Humangenetik 26:133–138 Laurent C, Biemont M-Cl (1975) Sur quatre nouveaux cas de translocation de chromosome X chez l'homme. Humangenetik 26:35–46 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 24:162–164 Leisti JT, Kabach 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, Rethore MO, Prieur M, Couturier S, 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. Symposia Medica Hoechst 6. FK Schattauer, Stuttgart New York Leichtman DA, Schmickel RD, Gelehrter TD, Judd WJ, Woodbury MC, Meilinger KL (1978) Familial Turner syndrome. Ann Intern Med 89:473–476 Lindenbaum RH, Clarke G, Patel C, Moncrieff M, Hughes JT (1979) Muscular dystrophy in an X-1 translocation female suggests that Duchenne locus is on X chromosome short arm. J Med Genet 16: 389–392 Lindsley DL, Edington CW, Halle J von (1980) Sex-linked recessive lethals in drosophilla, whose expression is suppressed by the Y-chromosome. Genetics 45:1649–1670 Lucas M, Smithies A (1973) Banding patterns and autoradiographic studies of cells with an X-autosome translocation. Ann Hum Genet Lond 37:9–12 Madan K, Hompes PGA, Schoemaker J, Ford CE (1981) X-autosome translocation with a breakpoint in Xq22 in a fertile woman and her 47,XXX infertile daughter. Hum Genet 59:290–296 Maeda T, Ohno M, Nishida M, Tsukioka K, Tomita H (1979) Turner's syndrome with a duplication-deficiency X chromosome derived from a maternal pericentric inverson X chromosome. Clin Genet 15:259–266 Mann J, Higgins J (1974) A case of primary amenorrhea with X-autosomal translocation 46,X,t(Xq-;5q+). Am J Hum Genet 26:416 Mann J, 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 Mariani R, Lambert JC, Krebs B, Depaz G, Avraud N (1980) Dysgénésie ovarienne pure par translocation t(X;3)(q21;q12). Ann Pediatr (Paris) 27:129–132 Marmor D, Taillemite J-L, Aker J van den, Portnoi M-F, Joye N, Delafontaine D, Roux C (1980) Semen analysis in subfertile balanced-translocation carriers. Fertil Steril 34:496–502 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 McKusick VA (1982) The human genome through the eyes of a clinical geneticist. Cytogenet Cell Genet 32:7–23 Mijin K, Adzic S, Markovic S, Sulovic V, Matijasevic S (1981) Translocation (X;9)(q24;q34) in a girl with ovary dysfunction. Clin Genet 20:403–406 Mohandas T, Miles J, Sparkes RS, Sparkes MC, Passage MB, Kaback MM (1978) Assignment of adenosine deaminase (ADA) to the long arm of 20: cytogenetic and somatic cell studies in an X/20 translocation. Am J Hum Genet 30:133A Nichols WW, Miller RC, Sobel M, Hoffman E, Sparkes RS, Mohandas T, Veomett I, Davis JR (1980) Further observations on a 13qXp translocation associated with retinoblastoma. Am J Ophthalmol 89:621–627 Nielsen LB, Jacobsen BB, Nielsen LM, Tabor A (1983) X; autosome translocation in a girl with muscular dystrophy. Proceedings of the Eur. Soc. Hum. Genet. Madrid 1982. Clin Genet 23:242 Niebuhr E, Seemanová E, Losan F (1974) Familial occurrence of pericentric inversion of X chromosome. Čs Pediatr 29:245–247 Nikoliš J, Stolević E (1978) Recominant chromosome as a result of pericentric inversion of X chromosome. Hum Genet 45:115–122 Opitz JM, Demars RI, Inhorn SI, Elejalde BR (1978) Follow-up on a human X-autosome translocation first studied in 1963 and 1964. Birth Defects, vol XIV, no 66. The National Foundation, pp 365–375 Palmer CG, Hubbard TW, Henry GW, Weaver DD (1980) Failure of inactivation in the autosomal segment of an X/A translocation. Am J Hum Genet 32:179–187 Palmer C, Nance W, Clearly R, Dexter R (1973) Structural abnormalities of the X-chromosome in pure gonadal dysgenesis. Am J Hum Genet 25:57A Patil SR, Lubs HA, Bron J, Cohen M, Gerald P, Hecht F, Kimberling W, Myrianthopoulos N, Summit RL (1977) Incidence of major chromosome abnormalities in children. Cytogenet Cell Genet 18: 302–306 Pearson PL, Witterland WF, Meera Khan P, Wit J de, Bobrow M (1978) Reinvestigation of two X/autosome translocations: segregation in cell hybrids. Cytogenet Cell Genet 22:534–537 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 Punnett HH, Kistenmacher ML, Greene AE, Coriell IL (1974) An (X;1) translocation, balanced, 46 chromosomes. Cytogenet Cell Genet 13:406–407 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 17:309–316 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 Soler A, Salami C, Balmes I, Carrio A, Tejada I, Farguell T, Cols N, Cararach J, Fortuny A (1981) Premature menopause in subjects of a family with pericentric inversion of the X chromosome. Clin Genet 20:234–235 Stengel-Rutkowski S, Zankl H, Rodewald A, Scharrer S, Chaudhuri JP, Zang KD (1976) Aspermia, associated with a presumably balanced X7 autosomal translocation. Hum Genet 31:97–106 Sujanski E, Hsu LY, Lucas M, Hirschhorn K (1973) Nature of X-autosome translocation and choice of X-inactivation. Pediatr Res 7:343 Summitt RL, Martens PR, Wilroy RS Jr (1974) X-autosome translocation in normal mother and effectively 21-monosomic daughter. J Pediatr 84:539–546 Summitt RL, Tipton RE, Wilroy RS Jr, Martens PR, Phelan JP (1978) X-autosome translocations: A review. Birth Defects, vol XIV, no 6. The National Foundation, pp 219–247 Tabor A, Andersen O, Lundsteen C, Niebuhr E, Sardemann H (1983) Interstitial deletion in the “critical region” of the long arm of the X chromosome in a mentally retarded boy and his normal mother. Proceedings of the Eur. Soc. Hum. Genet. Madrid 1982. Clin Genet 23:249 Thelen TH, Abrams DJ, Fisch RO (1971) Multiple abnormalities due to possible genetic inactivation in an X/autosome translocation. Am J Hum Genet 23:410–418 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 VanDyke DL, Weiss L, Abraham JP, Ghosh P (1977) Replication studies in X chromosome abnormalities. Am J Hum Genet 29:109A Verellen Ch, Markovic V, DeMeyer R, Freund M, Laterre Ch, Worton R (1978) Expression of an X-linked recessive disease in a female due to non-random inactivation of the X chromosome. Am J Hum Genet 30:97A Vianna-Morgante AM, Zatz M, Campos P, Diament AJ (1981) Translocation (X;6) in a female with Duchenne muscular dystrophy implications for the localization of the DMD locus. The 6th International Congress of Human Genetics, Jerusalem, Sept. 13–18 Wegner R-D (1982) Translocation t(X;1) and the “critical region hypothesis”. Hum Genet 61:79 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 Zatz M, Vianna-Morgante AM, Campos P, Diament AJ (1981) Translocation (X;6) in a female with Duchenne muscular dystrophy: implications for the localization of the DMD locus. J Med Genet 18:442–447