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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- Same entry as in 46,XY, Gonadal dysgenesis (Smyk et al, 2007).
- Boyd Y, Buckle V J: Cytogenetic heterogeneity of translocations associated with Duchenne muscular dystrophy. Clin. Genet. 29:108-115, 1986. [PubMed: 3955860]Cell lines from nine patients were established; six of these definitely had breakpoints at Xp212; two at p211 or p212; and one at p212 or p213.Aberration: Simple translocationMIM#: 310200Index Terms: Muscular dystrophy ... DuchenneNegative band
- Evans M I, Farrell S A, Greb A, Ray P, Johnson M P, Hoffman E P: "In utero fetal muscle biopsy for the diagnosis of Duchenne muscular dystrophy in a female fetus ""suddenly at risk""." AJMG 46:309-312, 1993. [PubMed: 8488877]46,X,t(X;1)(p21.2;p36.3)de novo.A normal girl was born after an exciting work-up done by the team.Aberration: Reciprocal translocationMIM#: 310200Negative band
- Francke U, Harper J F, Darras B T, Cowan J M, McCabe E R B, Kohlschutter A, Seltzer W K, Saito F, Goto J, Harpey J P, Wise J E: Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions. AJHG 40:212-227, 1987. [PMC free article: PMC1684111] [PubMed: 2883886]Patient BB''s karyotype did not show band Xp212.46,Y,del(X)(pter -> p21.3::p21.1 -> qter).Aberration: Interstitial deletionMIM#: 307030,300200,310400Index Terms: Glycerol kinase deficiencyNegative band
- Gustashaw K M, Zurcher V, Dickerman L H, Stallard R, Willard H F: Partial X chromosome trisomy with functional disomy of Xp due to failure of X inactivation. AJMG 53:39-45, 1994. [PubMed: 7802034]46,XX,-13,+der(13)t(X;13)(p21.2;p11.1).Xp duplicated segment is not inactivated.Aberration: Simple translocationChromosomal Aneuploidy: Xp+Negative band
- Harris P, Cooke A, Boyd E, Young B D, Ferguson-Smith M A: The potential of family flow karyotyping for the detection of chromosome abnormalities. Hum. Genet. 76:129-133, 1987. [PubMed: 3610143]46,X,t(X;3)(p21.2;q27).&46,X,del(X)(p21.2 -> p22.11).Aberration: ID,STNegative band
- Holden J J A, Smith A, MacLeod P M, Masotti R, Duncan A M V: Xp21/autosome translocations. Case report and risk for Duchenne muscular dystrophy. Clin. Genet. 29:516-522, 1986. [PubMed: 3742857]15 year female patient was studied.46,X,t(X;2)(p21.2;q37)de novo.Aberration: Simple translocationMIM#: 310200Index Terms: Muscular dystrophy ... DuchenneNegative band
- Ionasescu V V, Searby C, Ionasescu R: Prenatal diagnosis of Duchenne muscular dystrophy based on Xp21.2 deletion. Neurology 36:1143-1144, 1986. [PubMed: 3736886]Deletion was demonstrated with probe pERT87.del(X)(p212).Aberration: Interstitial deletionMIM#: 310200Index Terms: Muscular dystrophy ... DuchenneNegative band
- Marlhens F, Chelly J, Kaplan J C, Lefrancois D, Harpey J P, Dutrillaux B: Familial deletion of Xp21.2 with glycerol kinase deficiency and congenital adrenal hypoplasia. Hum. Genet. 77:379-383, 1987. [PubMed: 2891606]Mother:46,X,del(X)(p212 -> p213).&46,Y,del(X)(p212 -> p213).Aberration: Interstitial deletionMIM#: 300200,307030Chromosomal Aneuploidy: Xp-Index Terms: Glycerol kinase deficiencyNegative band
- Morichon-Delvallez N, Couturier J, Frison B: "Mild clinical manifestation in a child with trismoy 4p due to a t(X;4)(p21.2;p13)." Ann. Genet. 25:246-248, 1982. [PubMed: 6985016]Aberration: Simple translocationNegative band
- Nevin N C, Hughes A E, Calwell M, Lim J H K: Duchenne muscular dystrophy in a female with a translocation involving Xp21. J. Med. Genet. 23:171-173, 1986. [PMC free article: PMC1049575] [PubMed: 3712394]
van Bakel I, Holt S, Craig I, Boyd Y.: Sequence analysis of the breakpoint regions of an X;5 translocation in an female with Duchenne muscular dystrophy. AJHG 57:329-336, 1995. [PMC free article: PMC1801551] [PubMed: 7668258]Comparison of the DNA sequences revealed that the translocation arose by nonhomologous recombination with an imprecise reciprocal exchange. There were deletions and insertions at the two breakpoints. A 9-bp sequence of 78% homology located near the breakpoints on chromosomes 5 and X and a repeat motif with an internal homopyrimidine stretch 10 bp upstream from the X-chromosome breakpoint may have played a role in the generation of the translocation according to the authors of the 1995 paper.46,X,t(X;5)(p21.2;q31.2).The patient was followed and is now 16.5 years. She is wheelchair bound along with other problems. Otherwise she is alert and bright.Aberration: Reciprocal translocationMIM#: 310200Index Terms: Muscular dystrophy ... DuchenneNegative band - Nielsen L B, Boczkowski K, Mikkelsen M, Dahl G, Andersen E: Partial Turner''s syndrome in four girls with Xq duplication and Xp deficiency. Hum. Genet. 61:12-17, 1982. [PubMed: 7129418]Case 2 (L. F., 000057).46,X,dup(X)(qter -> q211::p212 -> qter).Aberration: DuplicationIndex Terms: Turner syndromeNegative band
- Pillers D A M, Towbin J A, Chamberlain J S, Wu D, Ranier J, Powell B R, McCabe E R B: Deletion mapping of Aland Island eye disease to Xp21 between DXS67 (B24) and Duchenne muscular dystrophy. AJHG 47:795-801, 1990. [PMC free article: PMC1683699] [PubMed: 2220819]
Pillers D A M, Weleber R G, Powell B R, Hanna C E, Magenis R E, Buist N R M: Aland Island Eye disease (Forsius-Eriksson ocular albinism) and an Xp21 deletion in a patient with Duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia. AJMG 36:23-38, 1990. [PubMed: 2159212]46,Y,del(X)(p21.2 -> p21.3).Aland Island Eye disease (AIED) also known as Forsius-Eriksson or type 2 ocular albinism is mapped between DXS67 and DMD.Aberration: Interstitial deletionMIM#: 300600Chromosomal Aneuploidy: Xp-Negative band - Saito-Ohara F, Fukuda Y, Ito M, Agarwala K L, Hayashi M, Matsuo M, Imoyo I, Yamakawa K, Nakamura Y, Inazawa J.: The Xq22 inversion breakpoint interrupted a novel ras-like GTPase gene in a patient with Duchenne muscular dystrophy and profound mental retardation. AJHG DOI=0002-9297/2002/7103; 71:, 2002. [PMC free article: PMC379199] [PubMed: 12145744]46,XY,der inv(X)(p21.2q22.22)mat.The patient died at the age of 18 years.Aberration: Inversion pericentricMIM#: 300377
- Sanlaville D, Vialard F, Thepot F, Vue-Droy L, Ardalan A, Niazrd P, Corre A, Devauchelle B, Martin-Denavit T, Nouchy M, Malan V, Taillemite J-L, Portnoi M-F.: Functional disomy of Xp including duplication of DAX1 gene with sex reversal due to t(X;Y)(p21.2;p11.3). AJMG 128A:325-330, 2004. [PubMed: 15216557]46,X,der(Y)t(X;Y)(p21.2;p11.3)de novoThe patient was 2 years old with dysmorphic features.Aberration: Simple translocationMIM#: 300473Chromosomal Aneuploidy: Xp+Index Terms: DAX1
- Scherer G, Schempp W, Baccichetti C, Lenzini E, Bricarelli F D, Carbone L D L, Wolf U: Duplication of an Xp segment that includes the ZFX locus causes sex inversion in man. Hum. Genet. 81:291-294, 1989. [PubMed: 2921042]Two patients were studied with DNA probes.46,XY,dup(X)(p21.2p22.2).These two patients were phenotypic females.Aberration: DuplicationMIM#: 314980Index Terms: Sex-inversionNegative band
- Soyke A, Stumm M, Krebs P, Kloos D-U, Wieacker P, Elsner J, Mohnike K.: Familial occurrence of a del(Xp-) chromosome: pitfall in karyotype/phenotype correlation. AJMG 80:436-438, 1998. [PubMed: 9856579]Proband=46,X,der del(X)(p21.2)mat.,Mother=mos45,X[94%]/46,X,del(X)(p21.2)[6%]-blood.Proband presented at age 7 because of short stature (114cm, <3rd centile). She had stigmata of Ullrich-Turner syndrome.Aberration: Terminal deletionChromosomal Aneuploidy: Xp-
- 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 P21=46,X,t(X;9)(p21.2;q21.3)de novo.Aberration: Simple translocationNo band
- Wenger S L, Steele M W, Hoffman E P, Barmada M A, Wessel H B: "X inactivation and dystrophin studies in a t(X;12) female: evidence for biochemical normalization in Duchenne muscular dystrophy carriers." AJMG 43:1012-1015, 1992. [PubMed: 1415326]46,X,t(X;12)(p21.2;q24.33)de novo.Patient was a 4 year old girl who had an high level of serum creatine kinase with mild muscle weakness in a limb-girdle distribution and abnormally firm calf muscles.Aberration: Reciprocal translocationMIM#: 310200Negative 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. 13:46,X,t(X;3)(p21.2;q22.2)The patient had a normal phenotype and the abnormal X was late replicating (100%).Aberration: Simple translocationNo band
- Zinn A R, Ouyang B, Ross J L, Varma S, Bourgeois M, Tonk V.: Del(X)(p21.2) in a mother and two daughters with variable ovarian function. Clin. Genet. 52:235-239, 1997. [PubMed: 9383030]Proband=46,X,der del(X)(p21.2)mat.,Mother=mos45,X[24 cells]/46,X,del(X)(p21.2)[6 cells].,Sister=46,X,der del(X)(p21.2)mat.All three showed somatic features of Ullrich-Turner syndrome and only the proband showed signs of ovarian failure.Aberration: Terminal deletionChromosomal Aneuploidy: Xp-
- 0Xp212 - Chromosomal Variation in Man0Xp212 - Chromosomal Variation in Man
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