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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- Cohen M M, Lin C C, Sybert V P, Orecchio E J: Two human X-autosome translocations identified by autoradiography and fluorescence. AJHG 24:583-597, 1972. [PMC free article: PMC1762175] [PubMed: 5054227]
MacDermot K D, Hulten M A: "Female with hypohidrotic ectodermal dysplasia and de novo (X;9) translocation. Clinical documentation of the AnLy cell line case." Hum. Genet. 84:577-579, 1990. [PubMed: 2338345]
Zonana J, Roberts S H, Thomas N S T, Harper P S: "Recognition and reanalysis of a cell line from a manifesting female with X linked hypohidrotic ectodermal dysplasia and an X;autosome balanced translocation." J. Med. Genet. 25:383-386, 1988. [PMC free article: PMC1050505] [PubMed: 3398005]Patient No. 1 in this report.46,X,t(X;9)(q13.1;p24).&"46,X,t(X;9)(Xpter -> Xq13.1::9p24 -> 9pter;9qter -> 9p24::Xq13.1 -> Xqter)."Aberration: Reciprocal translocationMIM#: 305100Negative band - Herr H M, Horton S J, Scott C I, Jr: De novo paracentric inversion in an X chromosome. J. Med. Genet. 22:140-142, 1985. [PMC free article: PMC1049401] [PubMed: 3989830]46,X,inv(X)(q13.1q26.1).Aberration: Inversion paracentricNegative band
- Limon J, Filipiuk J, Nedoszytko B, Mrozek K, Castren M, Larramendy M, Roszkiewicz J: "X-linked anhidrotic ectodermal dysplasia and de novo t(X;1) in a female." Hum. Genet. 87:338-340, 1991. [PubMed: 1864610]46,X,t(X;1)(q13.1;p36.33)de novo.The 2-year-old girl had typical clinical features of anhidrotic ectodermal dysplasia (EDA).Aberration: Reciprocal translocationMIM#: 305100Negative band
- Turleau C, Niaudet P, Cabanis M O, Plessis G, Cau D, de Grouchy J: "X-linked hypohidrotic ectodermal dysplasia and t(X;12) in a female." Clin. Genet. 35:462-466, 1989. [PubMed: 2736795]46,X,t(X;12)(q13.100;q24.200 or q13.109;q24.3105).Aberration: Simple translocationMIM#: 305100Negative band
- Vejerslev L O, Rix M, Jespersen B: Inherited tandem duplication dup(X)(q131-q212) in a male proband. Clin. Genet. 27:276-281, 1985. [PubMed: 3987078]46,Y,dup(X)(q131q212).&46,X,dup(X).Aberration: Tandem translocationNegative band
- Villard L, Briault S, Lossi A-M, Paringaux C, Belougne J, Colleaux L, Pincus D R, Woollatt E, Lespinasse J, Munnich A, Moraine C, Font+¬s M, Gecz J.: Two unrelated patients with inversions of the X chromosome and non-specific mental retardation: physical and transcriptional mapping of their common breakpoint region in Xq13.1. J. Med. Genet. 36:754-758, 1999. [PMC free article: PMC1734241] [PubMed: 10528854]Case 1: 46,Y,der inv(X)(p11q13.1)mat.,Case 2: 46,Y,der inv(X)(q13.1q28)mat.Both male patients had severe learning difficulties while their mothers were intellectually normal.Aberration: IP,PI
- 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 P49,B506/83=46,X,t(X,8)(q13.1;p11).,Case 50,B2212/80=46,X,t(X;14)(q13.1;q11.2)de novo.,Case 51,B92/0983=46,X,t(X;22)(q13.1;q11.21).Aberration: Simple translocationNo band
- 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]Case No. 21:46,X,dup(X)(q13.1q24)The patient had an abnormal phenotype with dysmorphia and MR.Aberration: DuplicationChromosomal Aneuploidy: Xq+
- 0Xq131 - Chromosomal Variation in Man0Xq131 - Chromosomal Variation in Man
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