- Aller V, Gargallo M, Abrisqueta J A.: Familial transmission of a duplication-deficiency X chromosome associated with partial Turner syndrome. Clin. Genet. 48: 317-320, 1995. [PubMed: 8835328]Daughter 1 and 2 and their mother.46,X,der rea(X)(Xqter->Xq13::Xp11.4->Xqter)mat.Daughter 1 was first seen at 11 years and 5 months of ageand 110 cm tall. Mother and two daughters were affected with short stature, cubitus valgus, and hypothyroidism. Mother''s menstrual cycles were normal until the age of premenopause.Aberration: DuplicationChromosomal Aneuploidy: Xq+;Xp-Index Terms: Turner syndrome ... partialNegative band
- Armour C M< McGowan-Jordan J, Lawrence S E, Bouchard A, Basik M, Allanson J E.: A patient with de-novo partial deletion of Xp (p11.4-pter) and partial duplication of 22q (q11.2-qter). Clin. Dysmorphol. 17: 23-26, 2008. [PubMed: 18049076]46,X,der(X)t(X;22)(pp14;q11.2)mat.The patient, one of non-iedntical twins, was14 years 8 months old.Aberration: Simple translocationChromosomal Aneuploidy: Xp-; 22q+
- Bailey S M, Meyne J, Cornforth M N, McConnell T S, Goodwin E H.: A new method for detecting pericentric inversions using COD-FISH. Cytogenet. Cell Genet. 75:248-253, 1996. [PubMed: 9067435]46,X,inv(X)(pter->p11.4::q22.1->p11.4::q22.1->qter)Aberration: Inversion pericentricIndex Terms: COD-FISHNo band
- Boucher C A, Sargent C A, Ogata T, Affara N A.: Breakpoint analysis of Turner patients with partial Xp deletions: implications for the lymphoedema gene location. J. Med. Genet. 38:591-598, 2001. [PMC free article: PMC1734929] [PubMed: 11546827]9 Patients with varying breakpoints were studied.Patient 1=46,X,del(X)(p11.2).,Patient 2 & 8=46,X,del(X)(p11.21).,Patient 3=46,X,del(X)(p21).,Patient 4=46,X,der(X)t(X;2)(p11.22;p11.2).,Patient 5=46,X,der(X)t(X;Y)(p11.2/p11.4;q12/q11.2).,Patient 6=46,X,del(X)(p11.3).,Patient 7=46,X,del(X)(p11.23).,Patient 9=46,X,del(X)(P11.4).A lymphoedema critical region in Xp11.4 is proposed.Aberration: TD,STMIM#: 312865Chromosomal Aneuploidy: Xp-Index Terms: LymphoedemaNo 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 I:46,X,dup(X)(pter -> p11.4::p22.1 -> qter).Chromosomal Aneuploidy: Xp+Index Terms: RFLPs,Parental originNegative band
- Kirchhoff M, Rose H, Lundsteen C.: High resolution comparative genomic hybridisation in clinical cytogenetics. J. Med. Genet. 38:740-744, 2001. [PMC free article: PMC1734756] [PubMed: 11694545]Case No. 34=45,X/46,X,-X,+der(X)t(X;X)(p11.4;q12).,dim(Xpter->qter)dim(Xp11.4->pter).Patient had Turner syndrome?The ratio from Xp11.4->pter was more reduced than the rest of the X chromosome.Aberration: Simple translocationChromosomal Aneuploidy: Xp-;Xq-
- Massa G, Vanderschueren-Lodeweyckx M, Fryns J P: Deletion of the short arm of the X chromosome: a hereditary form of Turner syndrome. Europ. J. Pediat. 151:893-894, 1992. [PubMed: 1473542]Case 2.46,X,del der(X)(p11.4)mat.Patient was seen at the age of 10 years and 7 months because of short stature. Mother had small stature (147.1 cm,-2.5 SDS) and secondary amenorrhea from the age of 35 years.Aberration: Terminal deletionChromosomal Aneuploidy: Xp-Index Terms: Hereditary Turner syndromeNegative band
- Pettenati M J, Rao P N, Weaver R G, Jr, Thomas I T, McMahan M R: Inversion (X)(p11.4q22) associated with Norrie disease in a four generation family. AJMG 45:577-580, 1993. [PubMed: 8456827]46,X,der inv(X)(p11.4q22)mat.&46,Y,der inv(X)(p11.4q22)mat.All males with the inv(X) had the NDP.Aberration: Inversion pericentricMIM#: 310600Index Terms: Norrie diseaseNegative band
- Seller M J, Pal K, Horsley S, Davies A F, Berry A C, Meredith R, McCartney A C E.: A fetus with an X;1 balanced reciprocal translocation and eye disease. J. Med. Genet. 32:557-560, 1995. [PMC free article: PMC1050552] [PubMed: 7562972]
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 P27=46,X,t(X;1)(p11.4;p36.3)de novo.,Cases P28 and 30 (child)=46,X,t(X;7)(p11.4;q26.2).,Case P29=46,X,t(X;8)(p11.4;p21.3)de novo.At autopsy the eye anomalies were like the early stages of Norrie disease.Case ascertained prenatally because of a previous child with eye problems and because of advanced maternal age.Aberration: Reciprocal translocationMIM#: 310600Index Terms: Norrie diseaseNegative band - Shago M, Sgro M, Barozzino T, Antinucci D, Chakraborty P, Chitayat D, Teshima I.: An active ring X and haploinsufficiency of SHOX contribute to short stature, congenital anomalies, and developmental delay in a female. AJMG 10.1002/ajmg.10789; 113:279-285, 2002. [PubMed: 12439897]Aberration: Ring chromosomeMIM#: 604271Chromosomal Aneuploidy: Xp-Index Terms: SHOX,Rieger anomaly
- Slomski R, Braulke I, Behrend C, Schroder E, Colombo J P, Reiss J: Ornithine transcarbamylase (OTC) deficiency in a female patient with a de novo deletion of the paternal X chromosome. Hum. Genet. 89:632-634, 1992. [PubMed: 1511981]46,X,del(X)(p11.4p21)de novo.Aberration: Interstitial deletionMIM#: 311250Chromosomal Aneuploidy: Xp-Index Terms: Ornithine transcarbamylase deficiencyNegative band
- Styles S M: Evidence on the origin of an apparent X isochromosome in man: Trypsin-Giemsa banding. Twelfth Ann. Somatic Cell Genet. Conf., Utah, 80, 1974.46,X,-X,+t(X;X)(p114;q13).&"46,X,-X,+t(X;X)(Xqter -> cen -> p114::q13 -> qter)."Aberration: IsochromosomeNegative band
- Talaban R, Sellick G S, Spendlove H E, Howell R, King C, Reckless J, Newbury-Ecob R, Houlston R S.: Inherited pericentric inversion (X)(p11.4q11.2) associated with delayed puberty and obesity in two brothers. Cytogenet. Genome Res. 109:480-484, 2005. [PubMed: 15905641]Individual I:I=46,X,inv(X)(p11.4q11.2).,Individuals II:1 and II:2=46,Y,der inv(X)(p11.4q11.2)mat.Two brothers (II:1 and II:2) with Hypogonadotropic hypogonadism (HH), obesity and a maternally inherited (X) are described.The Xp11.4 breakpoint is spanned by two non-contiguous BAC clones (RP11-265P11 and RP11-403L9) covering 400 kb. The Xq11.2 breakpoint is refined by two overlapping BAC clones (RP13-83C14 and RP13-100A9).Aberration: Inversion pericentric
- Tommerup N, Tumer Z, Tonnesen T, Horn N: A cytogenetic survey in Menkes disease: implications for the detection of chromosomal rearrangements in X-linked disorders. J. Med. Genet. 30:314-315, 1993. [PMC free article: PMC1016341] [PubMed: 8487278]
Tumer Z, Tommerup N, Tonnesen T, Kreuder J, Craig I W, Horn N: Mapping of the Menkes locus to Xq13.3 distal to the X-inactivation center by an intrachromosomal insertion of the segment Xq13.3 to q21.2. Hum. Genet. 88:668-672, 1992. [PubMed: 1348049]Propositus SN.46,XY,ins(X)(p11.4q13.3q21.2).Aberration: Direct insertions within a chromosomeMIM#: 309400Index Terms: Menkes syndromeNegative band - Wilson M G, Modebe O, Towner J W, Frasier S D, Lin M S: Ullrich-Turner syndrome associated with interstitial deletion of Xp11.4 to p22.31. AJMG 14:567-576, 1983. [PubMed: 6859107]Patient was 16 years old.46,X,del(X)(pter -> p22.31::p22.31 -> p11.4::p11.4 -> qter).Aberration: Interstitial deletionIndex Terms: Ullrich-Turner syndromeNegative band
- Zemni R, Bienvenu T, Vinet M C, Sefiani A, Carrie A, Billuart P, McDonell N, Couvert P, Francis F, Chafey P, Fauchereau F, Friocourt G, des Portes V, Cardona A, Frints S, Meindl A, Brandau O, Ronce N, Moraine C, van Bokhoven H, Ropers H H, Sudbrak R, Kahn A, Fryns J P, Beldjord C, Chelly J.: A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation. Nature Genet. 24:167-170, 2000. [PubMed: 10655063]46,X,t(X;2)(p11.4;p21.3)The 10 year old patient had mild MR associated with autistic features, IQ score pf 64 and no distinctive dysmorphic features.Aberration: Simple translocation
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Copyright © 2011-2013, Digamber
Borgaonkar.
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National Center for Biotechnology Information (US), Bethesda (MD)
NLM Citation
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-. 0Xp114.