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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-.
Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].
Show details- Brandt C A, Hindkjaer J, Stromkjaer H, Pedersen S, Sunde L, Kolvraa S: Molecular cytogenetics: applications in clinical genetics. Europ. J. Obstet. Gynceol. 50:235-242, 1993. [PubMed: 8262301]Case 3:mos45,X/46,X,dup(Xq).Patient was 19 years old with primary amenorrhea and absence of pubic hair and breast development.Aberration: DuplicationNo 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]Two cases.46,X,der(X)t(X;16)(p11;q24)mat.,46,X,der(X)t(X;16)(Xqter->Xp11)mat.Aberration: Simple translocationIndex Terms: Gonadal dysgenesisNo 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 2 in this report.46,X,del(Xq).,A likely interpretation, put forward by the authors is that of an interstitial deletion of the region between bands q13 and q26.No band
- Gaal M, Laszlo J, Bosze P: Comparative cytogenetical and morphological studies in ovarian dysgenesis. J. Clin. Path. 27:951-954, 1974. [PMC free article: PMC475561] [PubMed: 4141709]Patient Sch. A. in this report.46,XX/46,XXq-.Aberration: Terminal deletionIndex Terms: Ovarian ... dysgenesisNo band
- Jacobs P A, Mayer M, Rudak E, Gerrard J, Ives E J, Shokeir M H K, Hall J G, Jennings M, Hoehn H: More on marker X chromosomes, mental retardation and macro-orchidism. NEJM 300:737-738, 1979. [PubMed: 763313]Since the marker X chromosome is found in carrier female and in males without and with macro-orchidism there appears -> be no simple correlation.Aberration: Fragile sitesIndex Terms: Macro-orchidismNo band
- Lubs H A: A marker X chromosome. AJHG 21:231-244, 1969. [PMC free article: PMC1706424] [PubMed: 5794013]
McConkie-Rosell A, Finucane B, Cronister A, Abrams L, Bennett R L, Pettersen B J.: Genetic counseling for fragile X syndrome: updated recommendations of the National Society of Genetic Counselors. J. Genet. Counseling 14:249-270, 2005. [PubMed: 16047089]A secondary constriction near the end of the long arm giving the appearance of large satellites was found in males and females in a kindred.Aberration: Fragile sitesNo band - MacDonald I M, Sandre R M, Hunter A G W, Tenniswood M P R: Gene mapping of X-linked choroideremia with restriction fragment-length polymorphisms. Canad. J. Ophthalmol. 22:310-315, 1987. [PubMed: 2892583]
MacDonald I M, Sandre R M, Wong P, Hunter A G W, Tenniswood M P R: Linkage relationships of X-linked choroideremia to DXYS1 and DXS3. Hum. Genet. 77:233-235, 1987. [PubMed: 2890569]The gene has been localized to the region Xq13-22.MIM#: 313100Index Terms: Choroideremia,Restriction Fragment Length Polymorphism (RFLP)No band - Mann J D, Higgins J V: "A case of primary amenorrhea associated with X-autosomal translocation 46,X,t(Xq-;5q+)." AJHG 26:416, 1974. [PMC free article: PMC1762625] [PubMed: 4827371]46,X,t(Xq-;5q+).Aberration: Simple translocationNo band
- 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 12 in this report.mos 46,XX/46,X,del(Xq).,A footnote to this description states "complex mosaic involving other rearrangements of one X chromosome." Parents have not been studied.No band
- Powell C M, Taggart R T, Drumheller T C, Wangsa D, Qian C, Nelson L M, White B J: "Molecular and cytogenetic studies of an X;autosome translocation in a patient with premature ovarian failure and review of the literature." AJMG 52:19-26, 1994. [PubMed: 7977456]46,X,t(X;6)(q13 or q21;p12)de novo.Patient was 36 years old and ascertained through a survey of POF subjects.Aberration: Reciprocal translocationIndex Terms: Premature ... ovarian failureNo band
- Sparkes R S, Salter W J, Blaker R G, Muller H M: Insertional translocation into the X chromosome of a 46,XY male. Clin. Genet. 12:114-118, 1977. [PubMed: 891012]46,Y,ins(X;?)(q13;?), or 46,Y,ins(X;?)(q24;?) ,or 46,Y,-X,+der(X)ins dup?(q13 -> q24).Subject A.T. (M5-14-75) in this report.No band
- Therman E, Sarto G E, Palmer C G, Kallio H, Denniston C: Position of the human X inactivation center on Xq. Hum. Genet. 50:59-64, 1979. [PubMed: 468261]
Therman E, Sarto G E, Patau K: Center for Barr body condensation on the proximal part of the human Xq: A hypothesis. Chromosoma 44:361-366, 1974. [PubMed: 4134866]No band - Therman E, Trunca C, Kuhn E M, Sarto G E: Dicentric chromosomes and the inactivation of the centromere. Hum. Genet. 72:191-195, 1986. [PubMed: 3456974]Aberration: Dicentric chromosomeNo band
- Van Dyke D L, Flejter W L, Worsham M J, Roberson J R, Higgins J V, Herr H M, Knuutila S, Wang N, Babu V R, Weiss L: A practical metaphase marker of the inactive X chromosome. AJHG 39:88-95, 1986. [PMC free article: PMC1684029] [PubMed: 3463206]Aberration: Marker chromosomeNo band
- 0Xq000 - Chromosomal Variation in Man0Xq000 - Chromosomal Variation in Man
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