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Borgaonkar DS. Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1975-.

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Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].

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0Xp110

0Xp11
  • Baumann W A, Zabel B, Holl M: Familial pericentric inversion of X chromosome inv(X)(p11q28). Ann. Genet. 27:106-108, 1984. [PubMed: 6331785]
    46,X,inv(X)(p11q28).&46,Y,inv(X)(p11q28).
    Aberration: Inversion pericentric
    No band
  • Biemont M C, Laurent C, Couturier J, Dutrillaux B: Chronology of sexual chromosome bands replication from lymphocytes of normal and abnormal subjects. Ann. Genet. 21:133-141, 1978. [PubMed: 315188]
    Case No. 1 in this report.
    t(X;15)(p11;p11).
    Case No. 10 in this report.
    del(X)(p11).
    Case No. 12 in this report.
    psu dic (X;X)(p11;p11).
    Aberration: ST,TD,IC
    No band
  • Boczkowski K, Mikkelsen M: Fluorescence and autoradiographic studies in patients with Turner''s syndrome and 46,XXp- and 46,XXq- karyotypes. J. Med. Genet. 10:350-355, 1973. [PMC free article: PMC1013055] [PubMed: 4129970]
    Case No. 1 P.E. (241053) in this report.
    46,X,del(X)(p11).&46,X,del(X)(qter -> p11:).
    Aberration: Terminal deletion
    Index Terms: Turner syndrome
    No band
  • Borgaonkar D S, Herr H M: Unpublished observations, 1974.
    Patient No. 5177 in this laboratory.
    46,X,del(X)(p11q1).&46,X,del(X)(:p11 -> q1:).&The minute chromosome is interpreted as a deleted X chromosome. The patient has some features of Turner syndrome.
    Aberration: Terminal deletion
    Index Terms: Turner syndrome
    No band
  • Borgaonkar D S: Variability of length and frequency of aberrations of the Y chromosome in the population and in spontaneous abortions. In Sandberg, A A, Ed: The Y chromosome, Part B: Clinical Aspects of Y chromosome abnormalities. Liss, NY :15-26, 1985.
    Borgaonkar D S, Sroka B M, Flores M: Y-to-X translocation in a girl. Unpublished data 1:68-69, 1974. [PubMed: 4128861]
    Koo G C, Wachtel S S, Krupen-Brown K, Mittl L R, Breg W R, Genel M, Rosenthal I M, Borgaonkar D S, Miller D A, Tantravahi R, Schreck R R, Erlanger B F, Miller O J: Mapping the locus of the H-Y gene on the human Y chromosome. Science 198:940-941, 1977. [PubMed: 929180]
    Wolff D J, Schwartz S, Carrel L.: Molecular determination of X inactivation pattern correlates with phenotype in women with a structurally abnormal X chromosome. Genet. in Med. 2:136-141, 2000. [PubMed: 11397327]
    46,X,t(X;Y)(Yqter->Yq11::Xp11->Xq22:).,This translocation patient gives a positive H(Y) antigen test suggesting the localization of a structural or functional gene for the product on the long arm of the Y chromosome. All other patients studied suggest localization on the short arm. Another interpretation of this karyotype is also likely, that is attachment of the Y chromosome material is on the long arm side of the abnormal X chromosome. The patient is short and shows Barr bodies indicating possession of the X-inactivation site which is on the long arm of the X chromosome on the abnormal X chromosome. This makes the second explanation of the karyotype either unlikely or the breakpoint must be distal to the inactivation locus. Still another interpretation is that there is a pericentric inversion in the Y chromosome. Correct interpretation will have to await further work.
    Aberration: Simple translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    No band
  • Borgaonkar D S, Sroka B M: Unpublished observations, 1974.
    Patient No. 4989 in this laboratory.
    46,X,del(X)(p11).&46,X,del(X)(qter -> p11:).
    Aberration: Terminal deletion
    No band
  • Buckton K E, Jacobs P A, Rae L A, Newton M S, Sanger R: An inherited X-autosome translocation in man. Ann. Hum. Genet. 35:171-178, 1971. [PubMed: 5159532]
    45,X/46,XX,p-.&"46,X and Y,t(X;14)(p11;q32)."&"46,X,der(X)der(14)t(X;14)(p11;q32)mat."&Chromosome identification by autoradiography.&See report by Jacobs et al (1974).
    Aberration: Simple translocation
    No band
  • Cannizzaro L A, Hecht F: "Gene for incontinentia pigmenti maps to band Xp11 with an (X;10)(p11;q22) translocation." Clin. Genet. 32:66-69, 1987. [PubMed: 3621656]
    46,X,t(X;10)(p11;q22).
    Aberration: Reciprocal translocation
    MIM#: 308300
    No band
  • Chrz R, Kozak J, Malkova J: Densitometric study of G bands on human metaphase chromosomes. Humangenetik 18:149-154, 1973. [PubMed: 4720041]
    del(X)(p1).&del(X)(qter -> p1:).
    Aberration: Terminal deletion
    No band
  • Crolla J A, Gilgenkrantz S, de Grouchy J, Kajii T, Bobrow M: Incontinentia pigmenti and X-autosome translocations. Non-isotopic in situ hybridization with an X-centromeric-specific probe (pSV2X5) reveals a possible X-centromeric breakpoint in one of five published cases. Hum. Genet. 81:269-272, 1989. [PubMed: 2921037]
    Five previously reported patients were studied.
    MIM#: 308300
    No band
  • Davis J R, Heine M W, Graap R F, Lightner E S, Giles H R: X short-arm deletion gonadal dysgenesis in two sibs. BD-OAS XII(No. 5):137-138, 1976. [PubMed: 953214]
    Davis J R, Heine M W, Lightner E S, Giles H R, Graap R F: "X-short arm deletion gonadal dysgenesis in two siblings due to unique translocation (Xp-;16q+)." Clin. Genet. 10:202-207, 1976. [PubMed: 975595]
    Individual I-3 in the pedigree.
    46,X,t(X;16)(p11;q24).&"46,X,t(X;16)(Xqter -> Xp11::?16pter -> 16q24::Xp11 -> Xpter)."
    Individual II-6 in the pedigree.
    46,X,der(X)der(16)t(X;16)(p11;q24)mat.
    Individuals II-3 (Case 1, T.F.) and II-4 (Case 2, M.F.) in this report.
    46,X,der(X)t(X;16)(p11;q24)mat.&"46,X,der(X)t(X;16)(Xqter -> Xp11:)mat."
    Aberration: Tandem translocation
    Index Terms: Gonadal dysgenesis
    No band
  • de Grouchy J, Turleau C, Doussau de Bazignan M, Maroteaux P, Thibaud D: Incontinentia pigmenti (IP) and r(X). Tentative mapping of the IP locus to the X juxtacentromeric region. Ann. Genet. 28:86-89, 1985. [PubMed: 3876068]
    Sefiani A, Heuertz S, Turleau C, Thibaud D, de Grouchy J, Hors-Cayla M C: Incontinentia pigmenti: Xp breakpoint is not the same in a case of r(X) and in X/autosome translocations. Ann. Genet. 32:149-151, 1989. [PubMed: 2817774]
    mos45,X/46,X,r(X).
    Aberration: Ring chromosome
    MIM#: 308300
    No band
  • de la Chapelle A, Schroder J, Haahtela T, Aro P: Deletion mapping of the human X chromosome. Hereditas 80:113-120, 1975. [PubMed: 1141012]
    Case 1 in this report.
    46,X,del(Xp).&46,X,del(X)(qter -> p11:).
    Aberration: Terminal deletion
    No band
  • Deng H X, Xia J H, Ishikawa M, Niikawa N: Parental origin and mechanism of formation of X chromosome structural abnormalities: four cases determined with RFLPs. Jpn. J. Hum. Genet. 35:245-251, 1990. [PubMed: 1979996]
    Patient II:
    46,X,del(X)(qter -> p11:).
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: Xp-
    Index Terms: RFLPs,Parental origin
    No band
  • Evans M I, Simpson J L, Larson J W, Martin A O, Sarto G E, Schulman J D: Pericentric X chromosome ascertained during antenatal diagnosis. Clin. Genet. 18:30-33, 1980. [PubMed: 7418251]
    At 1 year the infant appeared normal.&46,X,inv(X)(p11q28).
    Aberration: Inversion pericentric
    No band
  • Fellous M, Pearson P L, van der Linden A G J M, Meera Khan P, Hagemeijer A: Mapping the Xga red blood cell antigen in human-chinese hamster cell hybrids. The Xg locus is possibly located on the short arm of the X chromosome. BD-OAS XI(No. 3):123-125, 1975. [PubMed: 1203469]
    Hagemeijer A, Pearson P L, Batenburg-Plenter A M, Smit E M E: Somatic cell hybridization and marker genes study applied to the understanding of an X/17 translocation transmitted in three generations. Bull. Eur. Soc. Hum. Genet. 6:49, 1974.
    46,X,t(X;17)(p11;q24).&The normal X chromosome appeared to be inactivated (Lyonized) in this individual.
    Aberration: Reciprocal translocation
    MIM#: 314700
    No band
  • Ferrier S A, Crippa L, Cabrol C, Pescia G: A case of Turner''s syndrome in 45,X/46,XXp- mosaicism associated with colour-blindness. J. Genet. Hum. 24:95-112, 1976. [PubMed: 1085812]
    Patient Gabrielle P. (010353, Obs. 72/106) in this report.
    45,X/46,X,del(X)(p11).&45,X/46,X,del(X)(qter -> p11:).
    Aberration: Terminal deletion
    Index Terms: Color blindness,Turner syndrome
    No band
  • Fryns J P, Kleczkowska A, Kubien E, Petit P, Van den Berghe H: Cytogenetic survey in couples with recurrent fetal wastage. Hum. Genet. 65:336-354, 1984. [PubMed: 6693122]
    46,XX,t(X;9)(p11;q13).
    Aberration: Reciprocal translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    No band
  • Fujita H, Tanigawa Y, Yoshida Y, Okada Y: Cytological findings of 10 cases with i(Xq) and one with dic(X)(qter to cen to p22::p11 to qter). Hum. Genet. 39:147-155, 1977. [PubMed: 598825]
    46,X,i(Xq)(qter -> cen -> qter).&46,X,idic(Xq)(qter -> p11 -> qter).&45,X/46,X,dic(X)(qter -> cen -> p22::p11 -> qter).
    Aberration: Dicentric chromosome
    No band
  • Goldman B, Polani P E, Daker M G, Angell R R: Clinical and cytogenetic aspects of X-chromosome deletions. Clin. Genet. 21:36-52, 1982. [PubMed: 7067163]
    Aberration: Terminal deletion
    No band
  • Grass F S, Schwartz R P, Deal J O, Parke J C, Jr: Gonadal dysgenesis, intra-X chromosome insertion, and possible position effect in an otherwise normal female. Clin. Genet. 20:28-35, 1981. [PubMed: 7296945]
    Patient was 16 years old and was karyotyped because of primary amenorrhea.
    46,XX,ins(X)(pter -> p11::q22 -> q24::p11 -> q22::q24 -> qter).
    Aberration: Direct insertions within a chromosome
    Index Terms: Gonadal dysgenesis
    No band
  • Hagemeijer A, Hoovers J, Smit E M E, Bootsma D: Replication pattern of the X chromosomes in three X/autosomal translocations. Cytogenet. Cell Genet. 18:333-348, 1977. [PubMed: 884969]
    The translocation was present in three generations. The late-replicating X was always the normal X in the normal carriers.&"46,X,t(X;17)(p11;q24)."&"46,X,t(X;17)(Xqter -> Xp11::17q24 -> 17qter;17pter -> 17q24::Xp11 -> Xpter)."&"46,X,der(X),t(X;17)(p11,q24)mat."&The X part of the translocation chromosome was always late replicating.
    Aberration: Reciprocal translocation
    No band
  • Herva R, Kaluzewski B, de la Chapelle A: Inherited interstitial del(Xp) with minimal clinical consequences: with a note on the location of genes controlling phenotypic features. AJMG 3:43-58, 1979. [PubMed: 474618]
    A 26-year-old woman, born in 1950, with mental retardation was found to have this abnormal chromosome which was also present in her mother and a sister, both were phenotypically normal. Absence of streak gonads indicates that band Xp21 and adjacent regions do not contain genes controlling formation of the ovaries. It is claimed that this is the first report of a heritable chromosome deletion compatible with a normal phenotype and reproduction.,46,X,del(X)(pter->p22::p11->qter).
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: Xp-
    No band
  • Howell R T, Roberts S H, Beard R J: Dicentric X isochromosomes in man. J. Med. Genet. 13:496-500, 1976. [PMC free article: PMC1013476] [PubMed: 1018308]
    Four cases of apparent i(Xq) are presented. It is suggested, on the basis of banding patterns, that these are iso dicentric chromosomes with different break points on the short arm of X and one of the centromeres is inactivated.&45,X/46,X,dic i(Xq)(p11).&45,X/46,X,dic i(Xq)(qter -> p11::p11 -> qter).
    Aberration: IC,DI
    No band
  • Ishitobi K, Nakada N, Watanabe A, Harada Y: Notes on clinical features of a 46,XXp-patient. Proc. Jpn. Acad. (Ser. B) 58:25-28, 1982.
    46,X,del(X)(qter -> p11:).
    Patient C.I., 000051 in this report.
    Aberration: Terminal deletion
    No band
  • Jacobs P A, Buckton K E, Cunningham C, Newton M S: An analysis of the break points of structural rearrangements in man. J. Med. Genet. 11:50-64, 1974. [PMC free article: PMC1013088] [PubMed: 4134839]
    M. R. C. Registry No. K24-60-66 in this report.
    46,X,t(X;14)(p11;q32).&See report by Buckton et al (1974).
    No band
  • James R S, Coppin B, Dalton P, Dennis N R, Mitchell C, Sharp A J, Skuse D H, Thomas N S, Jacobs P A.: A study of females with deletions of the short arm of the X chromosome. Hum. Genet. 102:507-516, 1998. [PubMed: 9654198]
    Lachlan K L, Youings S, Costa T, Jacobs P A, Thomas N S.: A clinical and molecular study of 26 females with Xp deletions with special emphasis on inherited deletions. Hum. Genet. 118:640-651, 2005. [PubMed: 16283387]
    The 2005 study draws some important conclusions regarding loci for fertility, stature, naevi and lymphogenesis.
    In 1998, 25 patients with different deletions of Xp were studied.
    Case No. 19, ID No. 90.2284:46,X,del(X)(p11)pat de novo.,Case No. 22, ID No. 95.2767:,mos45,X[50]/46,X,del(X)(p11)[87]/46,X,i(Xq)[16]pat de novo.,Case No. 24, ID No. 90.3806:,mos45,X/46,X,del(X)(p11)[55]mat de novo.
    All patients were referred for a variety of reasons, either with or without TS diagnosis.
    A single copy of the gene, DEFRX, may be compatible with normal ovarian function, and that there may be a gene for Turner-like features located in distal Xp22.3.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: Xp-
  • Johnson V P, McDonough P G, Cheung S W, Sun L: Sex chromosome marker: clinical significance and DNA characterization. AJMG 39:97-101, 1991. [PubMed: 1867271]
    Patient 1, FA.
    46,X,del(Y)(p11q11).
    Patient 2, KK.
    46,X,del(X)(p11q11).
    Aberration: Terminal deletion
    No band
  • Kaiser P, Gerhard-Ratschow K, Zabel B, Daume E: Short-arm deletion of an X chromosome (45,XO/46,XXp-). Hum. Genet. 37:93-96, 1977. [PubMed: 881199]
    Patient K. W.,207/75, was 31 years old.
    mos45,X/46,XX,del(X)(qter -> p11:).
    Aberration: Terminal deletion
    No band
  • Kaiser P, Zabel B, Hansen S, Daume E: Short arm deletion of an X chromosome 46,XXp-. Hum. Genet. 32:89-100, 1976. [PubMed: 1262028]
    Patient J.S.,11/75, was 27 years old.
    46,XX,del(X)(qter -> p11:).
    The mother and one sister.
    46,XX,inv(8)(p11q22).
    Aberration: Terminal deletion
    No band
  • Kalousek D K, Schiffrin A, Berguer A M, Spier P, Guyda H, Colle E: Partial short arm deletions of the X chromosome and spontaneous pubertal development in girls with short stature. J. Ped. 94:891-894, 1979. [PubMed: 448530]
    All of the five patients, with partial deletions of the short arm of X, had short stature.
    Patient 1.
    46,X,del(X)(p1102).
    Patient 2.
    46,X,del(X)(p2100).
    Patient 3.
    46,X,del(X)(p2100).
    Patient 4.
    mos 45,X/46,X,del(X)(p1106).
    Patient 5.
    mos 45,X/46,X,del(X)(p2100).
    Aberration: Terminal deletion
    Index Terms: Stature ... short (low)
    No band
  • Keitges E A, Palmer C G, Weaver D D: Pericentric X inversion in dizygotic twins who differ in X chromosome inactivation and menstrual cycle function. Hum. Genet. 62:210-213, 1982. [PubMed: 6892018]
    46,X,inv(X)(p11q22).
    Aberration: Inversion pericentric
    No band
  • Kleczkowska A, Fryns J P, Vinken L, Van Den Berghe H: Effect of balanced X/autosome translocations on sexual and physical development. A personal experience in 4 patients. Clin. Genet. 27:147-152, 1985. [PubMed: 3978849]
    46,X,t(X;9)(p11;q13).&"46,Y,t(X;9)(p11;q13)mat."&"46,X,t(X;12)(p11;q12)."&"46,Y,t(X;12)(p11;q12)mat."
    Aberration: Reciprocal translocation
    No band
  • Knijnenburg J, Szuhai K, Giltay J, Molenaar L, Sloos W, Poot M, Tanke H J, Rosenberg C.: Insights from genomic microarrays into structural chromosome rearrangements. AJMG DOI=10.1002/ajmg.a.30378;132A:36-40, 2004 and 2005. [PubMed: 15558722]
    Knijnenburg J, Szuhai K, Giltay J, Molenaar L, Sloos W, Poot M, Tanke H J, Rosenberg C.: Insights from genomic microarrays into structural chromosome rearrangements. AJMG DOI=10.1002/ajmg.a.30378; 132A:36-40, 2004 and 2005. [PubMed: 15558722]
    Knijnenburg J, Szuhai K, Giltay J, Molenaar L, Sloos W, Poot M, Tanke H J, Rosenberg C.: Insights from genomic microarrays into structural chromosome rearrangements. AJMG DOI=10.1002/ajmg.a.30378, 2004. [PubMed: 15558722]
    Rosenberg C, Wouters C H, Szuhai K, Dorland R, Pearson P, Poll-The B T, Colombijn R M, Breuning M, Lindhout D.: A Rett syndrome patient with a ring X chromosome: further evidence for skewing of X inactivation and heterogeneity in the aetiology of the disease. Europ. J. Hum. Genet. 9:171-177, 2001. [PubMed: 11313755]
    Patient C:
    46,X,r(X)(p10q21.1).
    Aberration: Ring chromosome
    MIM#: 312750
    No band
  • Laca Z, Dramusic V, Arandjelovic N, Brankovic S: Turner''s syndrome and 45,X,del(X)(p11p22) karyotype. Clin. Genet., 1981. [PubMed: 7273468]
    Patient M.Lj. was 19 years old. Presented with amenorrhea and short stature.
    Blood: 45,X(15 cells)/46,X,del(X)(Xqter -> Xp11::Xp22 -> Xqter)(32 cells).
    Aberration: Interstitial deletion
    Index Terms: Stature ... short (low),Turner syndrome
    No band
  • Leichtman D A, Schmickel R D, Gelehrter T D, Judd W J, Woodbury M C, Meilinger K L: Familial Turner Syndrome. Ann. Int. Med. 89:473-476, 1978. [PubMed: 697225]
    46,XX,t(X;1)(p11;q44).&"46,XX and XY,der(X)der(11)t(X;1)(p11;q44)mat."&"46,X,der(X)t(X;1)(p11;q44)mat."&"46,X,der(X)t(X;1)(Xqter -> Xp11:)mat."&Two other members in this family are presumed -> be carriers of the deleted X chromosome. The normal X chromosome was late labelling in carrier females.
    Aberration: Simple translocation
    Index Terms: Turner syndrome
    No band
  • Lungarotti M S, Martello C, Calabro A, Baldari F, Mariotti G: Hypomelanosis of Ito associated with chromosomal translocation involving Xp11. AJMG 40:447-448, 1991. [PubMed: 1746610]
    Patient C.S.
    46,X,t(X;18)(p11;q23)de novo.
    Patient was 3 years old with typical skin lesions of HI, neurologic impairment including mild mental retardation and abnormal gait.
    Aberration: Simple translocation
    MIM#: 146150
    No band
  • Martsolf J T, Ray M, Bauder F, Boychuk R, Armstrong J D: Down and Turner syndromes in a female infant with 47,X,del(X)(p11),+21. Hum. Genet. 39:103-108, 1977. [PubMed: 144697]
    Patient C. L. H. in this report. Parents have normal chromosomes.
    Aberration: Terminal deletion
    Index Terms: Down syndrome (Trisomy 21),Turner syndrome
    No band
  • Mashkova M V, Verlinskaya D K: "Familial X-autosomal translocation t(X;2)." Cytologia (USSR) 18:901-905, 1976. [PubMed: 982591]
    46,X,t(X;2)(p11;q36).&"46,X,t(X;2)(Xqter -> Xp11::2q36 -> 2qter;2pter -> 2q36::Xp11 -> Xpter)."
    A girl 14 years old with Shereshevsky-Turner syndrome is reported.
    46,X,der(X)t(X;2)(p11;q36)mat.&In the mother, the normal X chromosome was late-labelling whereas in the daughter, the abnormal X chromosome was late-labelling. The daughter had partial monosomy of the short arm of X chromosome and partial trisomy of the long arm of chromosome 2.
    Aberration: Reciprocal translocation
    Index Terms: Shereshevsky syndrome,Turner syndrome
    No band
  • Melaragno M I, Fakih L M A, Cernach M C S P, Maccagnan P: Isodicentric X chromosome and mosaicism: report on two cases of 45,X/46,X,idic(Xq)/47,X,idic(Xq),idic(Xq) and review of the literature. AJMG 47:357-359, 1993. [PubMed: 8135281]
    Patient 1, E.S.S.
    mos45,X(53.3%)/46,X,idic(X)(p11)(25.3%)/47,X,idix(X)(p11),idic(X)(p11)(19.3%)-blood.
    Patient was 11 9/12 years old with symptoms of Turner syndrome.
    Patient 2, R.N.M.
    mos45,X(44.5%)/46,X,idic(X)(p11)(21.6%)/47,X,idic(X)(p11),idic(X)(p11)(33.3%)/48,X,idic(X)(p11),idic(X)(p11),idic(X)(p11)(0.6%).
    Patient was 25 years old and referred because of her short stature (138cm) and primary amenorrhea.
    Aberration: IC,DI
    No band
  • Midro A T, Kulikowski M, Sawicka A, Panasiuk B, Korsak E: Familial occurrence of isodicentric X chromosomes with different breakpoints. Clin. Genet. 34:153-160, 1988. [PubMed: 3180502]
    Case 1, (III-1), 060959.
    46,X,dic(X)(qter->cen->p11::p11->cen->qter).
    Turner phenotype including at age 21 years presented with short stature and primary amenorrhea.
    Case 2, (II-4).
    mos45,X/46,X,dic(X)(pter -> q21::q21 -> pter).
    Paternal aunt of case 1, also had Turner stigmata.
    Aberration: Dicentric chromosome
    No band
  • Nielsen J, Rasmussen K, Sillesen I: A boy with 47,X,del(X)(p11 to q13::q21 to q24),del(Y)(q11). Reexamination of a case previously described as 47,XY,?Yq-. Hum. Genet. 31:227-230, 1976. [PubMed: 1248832]
    47,X,del(X)(p11q13q21q24),del(Y)(q11).&47,X,del(X)(:Xp11 -> Xq13::Xq21 -> Xq24:),del(Y)(Ypter -> Yq11:).
    Aberration: TD,ID
    No band
  • Panarello C, Acquila M, Caprino D, Gimelli G, Pecorara M, Mori P G: Concomitant Turner syndrome and hemophilia A in a female with an idic(X)(p11) heterozygous at locus DXS52. Cytogenet. Cell Genet. 59:241-242, 1992. [PubMed: 1544315]
    Patient PT.
    46,X,idic(X)(p11).
    At 3 months of age the patient was noted to have a bleeding disorder; at 9 years of age growth failure was noted; and at 14 years was noted to have growth failure and sonogram revealed streak gonads.
    Aberration: IC,DI
    No band
  • Patil S R: Personal communication, 1981.
    Patil S R, Lubs H A, Brown J A, Cohen M M, Gerald P S, Hecht F, Kimberling W J, Myrianthopoulos N, Summitt R L: Incidence of major chromosome abnormalities in children. Cytogenetics 18:302-306, 1977. [PubMed: 880833]
    Case 14 in this report.
    46,X,rec(X),del p11 or q21,inv(X)(p11q21)mat.
    Mother, and not the father as reported in the paper, is reported to have 46,X,inv(X)(p11q21) karyotype.
    Aberration: Inversion pericentric
    No band
  • Portnoi M-F, Bouayed-Abdelmoula N, Mirc M, Zemni R, Castaing H, Stephann J, Ardalan A, Vialard F, Nouchy M, Daoud P, Chelly J, Taillemite J-L.: Molecular cytogenetic analysis of a duplication Xp in a female with an abnormal phenotype and random X inactivation. Clin. Genet. 58:116-122, 2000. [PubMed: 11005144]
    46,X,dup(X)(p11-p21.2)de novo
    The patient, with MCA, died at 2 months of age.
    Aberration: Duplication
    Chromosomal Aneuploidy: Xp-
    No band
  • Robson L, Jackson J, Cowell C, Sillence D, Smith A: Novel karyotype in the Ullrich-Turner syndrome--45,X/46,X,r(X)/46,X,dic(X)--investigated with fluorescence in situ hybridization. AJMG 50:251-254, 1994. [PubMed: 8042669]
    mos45,X(75.2%)/46,X,r(X)(19.6%)/46,X,dic(X)(p11)(5.2%).
    Patient was 11 years old and studied because of short stature.
    Aberration: RI,DI
    No band
  • Ropers H H, Migl B, Zimmer J, Fraccaro M, Maraschio P, Westerveld A: Activity of steroid sulfatase in fibroblasts with numerical and structural chromosome aberrations. Hum. Genet. 57:354-356, 1981. [PubMed: 6945285]
    Data suggest that STS-gene may be subject to inactivation when carried on a structurally altered X-chromosome.
    Aberration: Terminal deletion
    No band
  • Salesses A, Boissonnas A, Rouffet A, Baverel F, Caquet R, Bugard P, Laroche C: X short arm deletion and Turner syndrome. A new case 46,X,del(X)(p11). Ann. d''Endocrinol. 42:147-151, 1981. [PubMed: 7294715]
    Patient F...A., was 21 years old.
    46,X,del(X)(p11).
    Aberration: Terminal deletion
    Index Terms: Turner syndrome
    No band
  • Sillesen I, Rasmussen K, Nielsen J: Turner''s syndrome with interstitial and presumptive terminal deletion short arm X. Hereditas 84:123-125, 1976. [PubMed: 1010756]
    45,X/46,X,del(X)(p11p21p22).&45,X/46,X,del(X)(qter -> p11::p11 -> p21::p21 -> p22:).&Both bands p21 and p22 are shortened and this might be due -> an interstitial and a terminal deletion. The 12-year-old patient had various features of Turner syndrome. Karyotypes of parents and a brother of the proband were normal.
    Aberration: ID,TD
    Index Terms: Turner syndrome
    No band
  • Solomon E, Bobrow M, Goodfellow P N, Bodmer W F, Swallow D M, Povey S, Noel B: Human gene mapping using an X/autosome translocation. Somat. Cell Genet. 2:125-140, 1976. [PubMed: 69325]
    46,X,t(X;15)(p11;q11).&"46,X,t(X;15)(Xqter -> Xp11::15q11 -> 15qter;Xpter -> Xp11::15q11 -> 15pter)."
    Aberration: Reciprocal translocation
    No band
  • Spinelli A, Schmid W, Straub P W: Christmas disease (haemophilia B) in a girl with deletion of the short arm of one X-chromosome (functional Turner syndrome). Brit. J. Haematol. 34:129-135, 1976. [PubMed: 952762]
    Patient U.C., aged one year in this report.
    46,X,del(X)(p11).&46,X,del(X)(qter -> p11:).
    Aberration: Terminal deletion
    MIM#: 306900
    Index Terms: Hemophilia,Turner syndrome
    No band
  • Uhrig S, Schuffenhauer S, Fauth C, Wirtz A, Daumer-Haas C, Apacik C, Cohen M, Muller-Navia J, Cremer T, Murken J, Speicher M R.: Multiplex-FISH for pre- and postnatal diagnostic applications. AJHG 65:448-462, 1999. [PMC free article: PMC1377944] [PubMed: 10417288]
    Patient 13 was ascertained because of thymic aplasia and cardiac anomaly.
    46,X,der(X)t(X;9)(p11;q31)
    Aberration: Simple translocation
    Chromosomal Aneuploidy: Xp-;9q+
  • van den Ouweland A M W, de Vries B B A, Bakker P L G, Deelen W H, de Graaff E, van Hemel J O, Oostra B A, Niermeijer M F, Halley D J J: DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reversal of mutation in the FMR-1 gene. AJMG 51:482-485, 1994. [PubMed: 7943024]
    Patient 4:
    46,X,del(X)(pter->p11::q11->qter).
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: Xp and q-
    No band
  • Verlinskaya D K, Mashkova M V: Isodicentric X chromosomes in Man. Cytologia (USSR) 19:1276-1278, 1977. [PubMed: 601863]
    Three out of 168 patients with Turner Syndrome were reported to have a large, submetacentric, abnormal and late-replicating X chromosome.&45,X/46,X,dic(X)(qter -> p11::p11 -> qter).&46,X,dic(X)(qter -> p21::p21 -> qter).&45,X/46,X,dic(X)(qter -> p22::p22 -> qter).
    Aberration: Dicentric chromosome
    Index Terms: Turner syndrome
    No band
  • Verma R S, Lieber E, Babu A: Lyonisation of human aberrant, X-chromosome with deletion of short arm \del(X)(p11)\. J. Obstet. Gynecol. 9:253-254, 1989.
    46,X,del(X)(qter -> p11:).
    Aberration: Terminal deletion
    No band
  • Wagenbichler P, Frisch H, Schnedl W: "A case of X/X translocation: t(X;X)(q26;p11)." Klin. Paed. 187:533-537, 1975. [PubMed: 765610]
    Case M.F. in this report.
    45,X/46,X,t(X;X)(q26;p11).&"45,X/46,X,t(X;X)(IXpter -> IXq26::IIXp11 -> IIXpter)."&The translocation X chromosome is inactive in this eight-year-old girl with short stature and congenital heart-anomaly.
    Aberration: Simple translocation
    Index Terms: Congenital heart defects (cardiovascular anomalies),Stature ... short (low)
    No band
  • Wang S G, Ren G Q, Xue H, Shen Q Y, Song L L, Yuan P: Cytogenetic study of 1633 cases. Chin. Med. J 101:231-236, 1988. [PubMed: 3138079]
    mos45,X/46,X,der(X)(pter -> q23::p11 -> pter).
    Aberration: Simple translocation
    No band
  • Ward B E, Bradley C M, Cooper J B, Robinson A: Homodicentric chromosomes: a distinctive type of dicentric chromosome. J. Med. Genet. 18:54-58, 1981. [PMC free article: PMC1048659] [PubMed: 7252999]
    Case 4.
    mos45,X/46,X(3.3%),dic(X)(qter -> p11::p11 -> qter)(92.3)/47,X,dic(X),dic(X)(13.3).
    Aberration: Dicentric chromosome
    No band
  • Zabel B, Baumann W A, Pirntke W, Gerhard-Ratschow K: X-inactivation pattern in three cases of X-autosome translocation. AJMG 1:309-317, 1978. [PubMed: 677170]
    46,X,t(X;21)(p11;p11?).&The abnormal X is inactivated.
    Aberration: Simple translocation
    No band
  • Zenger-Hain J L, Wiktor A, Goldman J, Van Dyke D L, Weiss L: X-inactivation pattern in an Ullrich-Turner syndrome patient with a small ring X and normal intelligence. AJMG 47:490-493, 1993. [PubMed: 8256812]
    Case No. B92-18234.
    Blood:mos45,X(22%)/46,X,r(X)(?p11q13)(76%)/47,X,r(X)(?p11q 13)+r(X)(?p11q13)(2%).
    The patient was 17 years old with primary amenorrhea and hyperthyroidism.
    FISH and DXZ1 probe was done.
    No band
  • Zinn A R, Tonk V S, Chen Z, Flejter W L, Gardner H A, Guerra R, Kushner H, Schwartz S, Sybert V P, Van Dyke D L, Ross J L.: Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1. AJHG 63:1757-1766, 1998. [PMC free article: PMC1377648] [PubMed: 9837829]
    Subjects SW16 and SW105=46,X,der(X)t(X;1)(p11;q44)mat.,SW86=46,X,der(X)t(X;X)(p11;q24).
    Aberration: Simple translocation
    Chromosomal Aneuploidy: Xp-
    Index Terms: Turner syndrome locus
  • Zuffardi O, Tiepolo L, Scappaticci S, Francesconi D, Bianchi C, di Natale D: Reduced phenotypic effect of partial trisomy 1q in a X/1 translocation. Ann. Genet. 20:191-194, 1977. [PubMed: 304704]
    Case P.S., 000070, in this report.
    46,X,-X,+t(X;1)(p11;q24).&"46,X,-X,+t(X;1)(Xqter -> Xp11::1q24 -> 1qter)."&Karyotypes of the parents and the brother were normal. Because of the spreading effect of inactivation of the translocated X chromosome, it is believed that the patient is not severely abnormal. Patient was studied because of retardation and was 6 years old.
    Aberration: Simple translocation
    No band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105645
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