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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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  • Abrams L, Cotter P D.: Prenatal diagnosis of de novo X;autosome translocations. Clin. Genet. 65:423-428, 2004. [PubMed: 15099352]
    Amnio and cord blood at birth=46,X,t(X;6)(q26;q23)de novo
    Prenatal diagnosis was performed because of advanced maternal age. Growth of the child is normal.
    The normal X was late replicating.
    Aberration: Reciprocal translocation
  • Boyd Y, Buckle V J, Monro E A, Choo K H, Migeon B R, Craig I W: Assignment of the haemophilia B (Factor IX) locus to the q26 to qter region of the X chromosome. Ann. Hum. Genet. 48:145-152, 1984. [PubMed: 6331274]
    MIM#: 306900
    Negative band
  • Buhler E M, Hadziselimovic F, Pira U: A variant of the fra(X) syndrome. Hum. Genet. 61:273-275, 1982. [PubMed: 6890944]
    Aberration: Fragile sites
    Negative band
  • Butler M G, Allen G A, Haynes J L, Clark S J: "Chromosome lesions which could be interpreted as ""fragile sites"" on the distal end of Xq." AJMG 37:250-253, 1990. [PubMed: 2248293]
    A study was conducted in 160 mentally retarded males.
    Aberration: Fragile sites
    Negative band
  • Calvano S, de Cillis G P, Croce A I, Perla G, Notarangelo A, Zelante L.: A complex mosaicism 45,X/46,X,del(Xq)/46,X,idic(Xq) in a patient with secondary amenorrhea. Ann. Genet. DOI=10.1016/S0003-3995(02)01121-8; 45:137-140, 2002. [PubMed: 12381444]
    The patient was a 35-year-old female.
    Aberration: DI,IC
    Chromosomal Aneuploidy: Xp+;Xq+
    Index Terms: Amenorrhea secondary
  • Cantu J M, Diaz M, Moller M, Jimenez-Sainz M, Sandoval L, Vaca G, Rivera H: "Azoospermia and duplication 3qter as distinct consequences of a familial t(X;3)(q26;q13.2)." AJMG 20:677-684, 1985. [PubMed: 3993688]
    Aberration: Simple translocation
    Index Terms: Azoospermia
    Negative band
  • Ferrero G B, Gebbia M, Pilia G, Witte D, Peier A, Hopkin R J, Craigen W J, Shaffer L G, Schlessinger D, Ballabio A, Casey B.: A submicroscopic deletion in Xq26 associated with familial situs ambiguus. AJHG 61:395-401, 1997. [PMC free article: PMC1715914] [PubMed: 9311745]
    Family LR1
    The HTX1 gene is associated with segment Xq24-q27.1.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: Xq-
    Index Terms: Situs ambiguus familial
    No band
  • Florez L, Anderson M, Lacassie Y.: De novo paracentric inversion (X)(q26q28) with features mimicking Prader-Willi syndrome. AJMG 121A:60-64, 2003. [PubMed: 12900904]
    46,X,inv(X)(q26q28)de novo
    The patient was 11 years old with symptoms of PWS.
    Aberration: Inversion paracentric
    Chromosomal Aneuploidy: Xq-
    Index Terms: PWS
  • Garcia-Heras J, Martin J A, Witchel S F, Scacheri P.: De novo der(X)t(X;10)(q26;q21) with features of distal trisomy 10q: case report of paternal origin identified by late replication with BrdU and the human androgen receptor assay (HAR). J. Med. Genet. 34:242-245, 1997. [PMC free article: PMC1050901] [PubMed: 9132498]
    46,X,der(X)t(X;10)(Xpter->Xq26::10q21.2->10qter)de novo
    The 11 year old was evaluated because of developmental delay and craniofacial, chest, and limb dysmorphism.
    The correlation of HAR and LR suggests that the der(X) was paternally inherited.
    Aberration: Simple translocation
    Index Terms: Human androgen receptor assay
  • 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]
    Aberration: Reciprocal translocation
    Negative band
  • Pearson P L, van der Linden A G J M, Hagemeijer A: Localization of gene markers to regions of the human X chromosome by segregation of X-autosome translocations in somatic cell hybrids. BD-OAS X(No. 3):136-142, 1974. [PubMed: 4827480]
    Cited by Gerald, P S and J A Brown:29-34.
    Aberration: Simple translocation
    Negative band
  • Phelan J P, Upton R T, Summitt R L: Balanced reciprocal X-4 translocation in a female patient with early secondary amenorrhea. Am. J. Obst. Gynecol. 129:607-613, 1977. [PubMed: 920762]
    46,X,rcp(X;4)(q26;q21).,46,X,rcp(Xpter->Xq26::4q21->4qter;4pter->4q21::Xq26->Xqter).,There is a discussion about the karyotype-phenotype relationship in this 29 year-old patient. A segment of the long arm of X (C->D) is believed to be related to the phenotypic expression.
    Aberration: Reciprocal translocation
    Negative band
  • Punnett H H: Simpson-Golabi-Behmel syndrome (SGBS) in a female with an X-autosome translocation. AJMG 50:391-393, 1994. [PubMed: 8209925]
    Punnett H H, Kistenmacher M L, Greene A E, Coriell L L: "An (X;1) translocation, balanced, 46 chromosomes. Repository identification No. GM-97." Cytogenet. Cell Genet. 13:406-407, 1974. [PubMed: 4139001]
    The 23 year old patient''s description has been provided by Dr. Punnett because of the likelihood that the gene is located at Xq26.
    Both parents and a female sib have normal karyotypes.
    Aberration: Reciprocal translocation
    MIM#: 312870
    Index Terms: Simpson-Golabi-Behmel syndrome
    Negative band
  • Sanger R, Alfi O S, Donnell G N: Partial trisomy 1q in 3 patients. AJHG 26:75A, 1974.
    Aberration: Simple translocation
    Negative band
  • Scholtes M C W, Behrend C, Dietzel-Dahmen J, van Hoogstraten D G, Marx K, Wohlers S, Verhoeven H, Zeilmaker G H.: Chromosomal aberrations in couples undergoing intracytoplasmic sperm injection: influence on implantation and ongoing pregnancy rates. Fert. Steril. 70:933-937, 1998. [PubMed: 9806579]
    2,280 patients undergoing ICSI were studied.
    Aberration: Reciprocal translocation
    Index Terms: ICSI
  • Suthers G K, Callen D F, Hyland V J, Kozman H M, Baker E, Eyre H, Harper P S, Roberts S H, Hors-Cayla M C, Davies K E, Bell M V, Sutherland G R: A new DNA marker tightly linked to the fragile X locus (FRAXA). Science 246:1298-1300, 1989. [PubMed: 2573953]
    Negative band
  • Taysi K: Del(X)(q26) in a phenotypically normal woman and her daughter who also has trisomy 21. AJMG 14:367-372, 1983. [PubMed: 6188379]
    Aberration: Terminal deletion
    Index Terms: Down syndrome (Trisomy 21)
    Negative band
  • Tharapel A T, Anderson K P, Simpson J L, Martens P R, Wilroy R S, Jr, Llerena J C, Jr, Schwartz C E: Deletion (X)(q26.1 to q28) in a proband and her mother: molecular characterization and phenotypic-karyotypic deductions. AJHG 52:463-471, 1993. [PMC free article: PMC1682144] [PubMed: 8095365]
    46,X,der del(X)(pter -> q26::qter)mat.
    The proband was detected during prenatal diagnosis and her mother was found to have the same deletion.
    It is concluded that the region q26 to qter contains a locus for ovarian maintenance.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: Xq-
    Negative band
  • Trunca C, Therman E, Rosenwaks Z: The phenotypic effects of small, distal Xq deletions. Hum. Genet. 68:87-89, 1984. [PubMed: 6500561]
    Aberration: Terminal deletion
    Negative band
  • von Ballestrem C L, Boavida M G, Zuther C, Carreiro M H, David D, Gal A, Schwinger E.: Jumping translocation in a phenotypically normal female. Clin. Genet. 49:156-159, 1996. [PubMed: 8737982]
    46,Y,der t(X;21)(q26;p11)mat.,46,X,t(X;21)(q26;p11)/46,X,t(X;15)(q26;p11).
    The son had dysmorphic features.
    The translocation appears to be ''balanced but not reciprocal". Skin cultures from the mother showed only the t(X;21) but the blood cultures showed the jumping (JT) translocation.
    Aberration: Unstable translocation
    Index Terms: Translocation ... jumping
    Negative band
  • Warburton D: De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. AJHG 49:995-1013, 1991. [PMC free article: PMC1683246] [PubMed: 1928105]
    Aberration: Reciprocal translocation
    Negative band
  • Waters J J, Campbell P L, Crocker A J M, Campbell C M.: Phenotypic effects of balanced X-autosome translocations in females: a retrospective survey of 104 cases reported from UK laboratories. Hum. Genet. 108:318-327, 2001. [PubMed: 11379878]
    Case P84, 95/4756=46,X,t(X;1)(q26;p22)mat.,Case 85=46,X,t(X;1)(q26;p22)de novo.,Case 86, B81/2562=46,X,t(X;3)(q26;p21).,Case P87, B91/0373=46,X,t(X;3)(q26;q21).,Case P88, 8906/93=46,X,t(X;3)(q26;q23).,Case P89, B86/1001=46,X,t(X;7)(q26;q22)de novo.,Case P90, B89/0163=46,X,t(X;13)(q26;q12).,Case P91, B97/1451=46,X,t(X;9)(q26;p21).
    Aberration: Simple translocation
    No band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106154


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