NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.
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- Allanson J E, Richter S: Linear skin defects and congenital microphthalmia: a new syndrome at Xp22.2. J. Med. Genet. 28:143-144, 1991. [PMC free article: PMC1016789] [PubMed: 2002490]Case 1 and Case 2 (mother of case 1).46,X,del(X)(qter -> p22.2:)mat.Patients with erythematous skin hypoplasia involving the head and neck, with microphthalmia, corneal opacities, and orbital cysts.This may be a new syndrome.Aberration: Terminal deletionChromosomal Aneuploidy: Xp-Index Terms: Erythematous skin hypoplasia,Corneae ... cloudy,Orbital cystsPositive band
- Barbi G, Steinbach P, Vogel W: Nonrandom distribution of methotrexate-induced aberrations on human chromosomes. Detection of further folic acid sensitive fragile sites. Hum. Genet. 68:290-294, 1984. [PubMed: 6239815]Aberration: Fragile sitesPositive band
- Boue A, Gallano P: A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses. Prenat. Diag. 4:45-67, 1984. [PubMed: 6463033]t(X;Y)(p222;q11).Aberration: Reciprocal translocationPositive band
- Chocholska S, Rossier E, Barbi G, Kehrer-Sawatzki H.: Molecular cytogenetic analysis of a familial interstitial deletion Xp22.222.3 with a highly variable phenotype in female carriers. AJMg DOI=10.1002/ajmg.a.31145; 140A:604-610, 2006. [PubMed: 16470742]46,del(X)(p22.2p22.3),X/Y.Proband II-5 was referred because of two developmentally retarded children and an existing pregnancy.Aberration: Interstitial deletionChromosomal Aneuploidy: Xp-
- Correction. Clin. Genet. 54:258, 1998.
Eggermann T, Mau U, Klein-Vogler U, Kendziorra H, Mackensen-Haen S, Sieverding L, Enders H, Kaiser P.: Molecular and cytogenetic analysis of an X/autosomal translocation: 45,X,dic(X;17)(p22.2;p13). Clin. Genet. 53:293-297, 1998. [PubMed: 9650768]45,X,dic(X;17)(p22.2;p13)The infant girl died at the age of 6 months probably due to the closure of the present left ductus arteriosus.The monosomies of both the distal p regions of X and 17 was demonstrated by STR typing.Aberration: Dicentric chromosomeChromosomal Aneuploidy: 17p- - Donnenfeld A E, Graham J M, Jr, Packer R J, Aquino R, Berg S Z, Emanuel B S: Microphthalmia and chorioretinal lesions in a girl with an Xp22.2-pter deletion and partial 3p trisomy: Clinical observations relevant to Aicardi syndrome gene localization. AJMG 37:182-186, 1990. [PubMed: 2248284]
Donnenfeld A E, Packer R J, Zackai E H, Chee C M, Sellinger B, Emanuel B S: Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome. AJMG 32:461-467, 1989. [PubMed: 2773986]Patient M.G.46,X,der(X),t(X;3)(p22.2;p22)mat.,46,X,t(X;3)(p22.2;p22).,46,X,t(X;3)(p22.2;p22)mat.Patient was 4 years old with normal appearing corpus callosum, developmental delay, infantile seizures, and microphthalmia.Gene disruption at Xp22 may lead to Aicardi syndrome and Focal dermal hypoplasia.Aberration: Simple translocationMIM#: 304050,305600Positive band - Ellison J W, Tekin M, Salvasen Sikes K, Yankowitz J, Shapiro L, Rappold G A, Neely E K.: Molecular characterization of a ring X chromosome in a male with short stature. Hum. Genet. DOI=10.1007/s00439-002-0685-7;110:322-326, 2002. [PubMed: 11941480]Patient A.S.46,Y,der r(X)(p22.2q27)mat.The patient was noted to have microcephaly, lack of dentition (at 14 months), and hyperactive behavior.Aberration: Ring chromosome
- Garcia-Heras J, Ulm J E, Shaver D E, Hall E, Saikevych I A.: Prenatal diagnosis of a der(X)t(X;15)(p22.2;q11.2) inherited from a maternal translocation X;15. Prenat. Diag. 18:747-750, 1998. [PubMed: 9706659]46,X,der(X)t(X;15)(Xqter->Xp22.2::15q11.2->15qter)mat.,47,XY,+der(15)t(X;15)(p22.2;q11.2)mat.Case ascertained because of abnormal triple screen. Both pregnancies were terminated.Aberration: Reciprocal translocationChromosomal Aneuploidy: 15q+;Xp-
- Kalz-Fuller B, Sleegers E, Schwanitz G, Schubert R.: Characterisation, phenotypic manifestations and X-inactivation pattern in 14 patients with X-autosome translocations. Clin. Genet. 55:362-366, 1999. [PubMed: 10422808]Patient 14:46,Y,t(X;5)(p22.2;p12)An infertile male patient, 29 years old.Aberration: Simple translocation
- Lindsay E A, Grillo A, Ferrero G B, Roth E J, Magenis E, Grompe M, Hulten M, Gould C, Baldini A, Zoghbi H Y, Ballabio A: Microphthalmia with linear skin defects (MLS) syndrome: Clinical, and molecular characterization. AJMG 49:229-234, 1994. [PubMed: 8116674]Patient 1, A.B.46,X,del(X)(pter -> p22.2).Patient is an adopted Korean girl with bilateral microphthalmia, small upslanted palpebral fissures, and cloudy cornea (opaque).The abnormal X was late replicating.Patient 2, M.S.mos45,X(6/42 cells)/46,X,del(X)(pter -> p22.2).&Fetus:46,X,der del(X)(pter -> p22.2)mat.The 36 year old woman had short stature. The fetus showed anencephaly on ultrasound which on pathologic examination was confirmed as exencephaly.Patient 3, D.P.46,X,t(X;Y)(p2;p1).Aberration: TD,STMIM#: 309801Chromosomal Aneuploidy: Xp-Index Terms: Microphthalmia with linear skin defectPositive 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 4 (A.-M. J. 000067).46,X,dup(X)(qter -> q213::p222 -> qter).Aberration: DuplicationIndex Terms: Turner syndromePositive band
- Palka G, Calabrese G, Mingarelli R, Guanciali Franchi P, Stuppia L, Morizio E, Peila R, Antonucci A.: Duplication Xp22.2 and pseudoisodicentric Yq detected by FISH and PCR in a sterile male. Clin. Genet. 48:213-216, 1995. [PubMed: 8591674]Patient G.A.45,-Y,dup(X)(p22.2)/46,X,idic,(Y)(q11).The 40-year-old man requested cytogenetic analysis because of azoospermia.Multiple tissues including blood, buccal and urinary epithelial cells were examined.Aberration: Dicentric chromosomeChromosomal Aneuploidy: Xp+Positive band
- Panasiuk B, Uginskiene R, Kostyk E, Rybatko A, Stasiewicz-Jarocka B, Krzykwa B, Pienkowska-Grela B, Kucinskas V, Michalova K, Midro A.: Genetic counselling in carriers of reciprocal chromosomal translocations involving short arm of chromosome X. Ann. Genet. 47:11-28, 2004. [PubMed: 15050871]Family 1:46,X,t(X;5)(p22.2;q32).Family 2:46,X,t(X;7)(p22.2;p11.1). ish(X;7)(wcpX+,wcp7+).There were three miscarriages each, in these two families.Aberration: Reciprocal translocation
- Temple I K, Hurst J A, Hing S, Butler L, Baraitser M: De novo deletion of Xp22.2-pter in a female with linear skin lesions of the face and neck, microphthalmia, and anterior chamber eye anomalies. J. Med. Genet. 27:56-58, 1990. [PMC free article: PMC1016883] [PubMed: 2308156]46,X,del(X)(qter -> p22.2:)de novo.Also see report of Al-Gazali et al (1990) under 0Xp223.Aberration: Terminal deletionChromosomal Aneuploidy: Xp-Index Terms: Skin ... lesions,Microphthalmia,Eye ... anomaliesPositive band
- Tiepolo L, Zuffardi O, Fraccaro M, di Natale D, Gargantini L, Muller C R, Ropers H H: Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223. Hum. Genet. 54:205-206, 1980. [PubMed: 6930361]
Tiepolo L, Zuffardi O, Rodewald A: Nullisomy for the distal portion of Xp in a male child with a X/Y translocation. Hum. Genet. 39:277-281, 1977. [PubMed: 598835]
Wolf U, Fraccaro M, Mayerova A, Hecht T, Maraschio P, Hameister H: A gene controlling H-Y antigen on the X chromosome. Tentative assignment by deletion mapping to Xp223. Hum. Genet. 54:149-154, 1980. [PubMed: 7390489]46,X,t(X;Y)(p222;q11).,46,X,t(X;Y)(Xqter->Xp222::Yq11->Yqter).Case M. A., 290176, in this report.46,Y,der t(X;Y)(p222;q11)mat.,The 7 month-old patient had abnormal external genitalia, small penis, and empty hypoplastic scrotum with medium rafe. Mother was 150 cm tall.Aberration: Simple translocationMIM#: 308100Index Terms: Genitalia ... anomalies,Penis ... small,Scrotum ... hypoplasticPositive band - Wimplinger I, Rauch A, Orth U, Schwarzer U, Trautmann U, Kutsche K.: Mother and daughter with a terminal Xp deletion: Implication of chromosomal mosaicims and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects (MLS) syndrome. Europ. J. Med. Genet. DOI=10.1016/j.ejmg.2007.07.004; 50:421-431, 2007. [PubMed: 17845869]Patient=46,X,del(X)(p22.31).,Mother=45,X[11]/46,X,del(X)(p22.2)[89].Mother was asymptomatic. The infant had classical MLS.Aberration: Terminal deletionMIM#: 309801Chromosomal Aneuploidy: Xp-Index Terms: Microphthalmia,Linear Skin defects syndrome (MLS)
- 0Xp222 - Chromosomal Variation in Man0Xp222 - Chromosomal Variation in Man
Your browsing activity is empty.
Activity recording is turned off.
See more...