- Bacino C A, Lee B, Spikes A S, Shaffer L G.: Trisomy 16q in a female newborn with a de novo X;16 translocation and hypoplastic left heart. AJMG 82:128-131, 1999. [PubMed: 9934975]46,X,der(X)dic(X;16)(p11.1;p11.2)de novoThe newborn had a notable absence of dysmorphic features. Studies have indicated that the 16q material was early replicating and active in all cells, while the Xq material was inactive in the derivative translocation chromosome.Aberration: ST,DIMIM#: 241550Chromosomal Aneuploidy: 16q+Index Terms: Hypoplastic left heart
- Hunter M, Bruno D, Amor D J.: Functional disomy of proximal Xp causes a distinct phenotype comprising early hypotonia, hyperteorism, small hands and feet, myopia and cognitive impairment. AJMG Part A: DOI=10.1002/ajmg.a.32954, 2009. [PubMed: 19610086]47,XX,+ESAC[dup(X)(p11.22-p11.10, extending from rs6614656 to rs2206164).Aberration: DuplicationChromosomal Aneuploidy: 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 6, family a, generation I :46,X,t(X;21)(p11.1;p11.1)de novoA normal female patient, 30 years old. The der(X) was 100% early replicating.Patient 7, family a, generation II :46,X,der(X)t(X;21)(p11.1;p11.1)matA female patient, 3 years old, had short stature.Aberration: Simple translocationIndex Terms: X-inactivation pattern in X-autosome translocations
- Langer S, Fauth C, Rocchi M, Murken J, Speicher M R.: AcroM fluorescent in situ hybridization analyses of marker chromosomes. Hum. Genet. 109:152-158, 2001. [PubMed: 11511920]Aberration: Ring chromosomeChromosomal Aneuploidy: Xp and q+Index Terms: SMC,AcroM
- Liehr T, Beensen V, Hauschild R, Ziegler M, Hartmann I, Starke H, Heller A, Kahler C, Schmidt M, Reiber W, Hesse M, Claussen U.: Pitfalls of rapid prenatal diagnosis using the interphase nucleus. Prenat. Diag. 21:419-421, 2001. [PubMed: 11360288]
Starke H, Nietzel A, Weise A, Heller A, Mrasek K, Belitz B, Kelbova C, Volleth M, Albrecht B, Mitulla B, Trappe R, Bertels I, Adolph S, Dufke A, Singer S, Stumm M, Wegner R-D, Seidel J, Schmidt A, Kuechler A, Schreyer I, Claussen U, von Eggeling F, Liehr T.: Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification. Hum. Genet. DOI=10.1007/s00439-003-1016-3;114:51-67, 2003. [PubMed: 13680362]Amniocytes=47,XX,+(mar)de novo[15]/46,XX[8].min(X)cen M-FISH,cepX+min(X)(:p11.1->q11:),Case 2=47,XX,+der(X)(p11.1q11)[13/15] umbilical cord blood.Interphase FISH results had suggested triple X mosaic syndrome situation.,Nuchal translucency in ultrasound; child born without clinical symptoms.35 SMCs derived from all the human chromosomes, except 6, were studied.In nine cases without an aberrant phenotype, neither partial proximal trisomies nor UPD could be detected. Small proximal trisomies of 1p, 1q, 2p, 6p, 6q, 7q, 9p, and 12q seem to lead to clinical manifestations, whereas partial proximal trisomies of 2q, 3p, 3q, 5q, 7p, 8p, 17p, and 18p may not be associated with significant clinical symptoms.Index Terms: Small supernumerary marker chromosomes (SMC) - Luleci G, Hosgor O, Karauzum S, Uner M: A rare case of Turner''s syndrome with 45,X/46,X,dic(X)(qter to p11.1::p11.4 to qter). Hereditas 113:217-220, 1990. [PubMed: 2093701]The patient was 30 years old and evaluated for amenorrhea and infertility.Aberration: Dicentric chromosomeChromosomal Aneuploidy: Xp-,Xq+Index Terms: Amenorrhea,InfertilityVariable band
- Santos M, Mrasek K, Madrigal I, Martorell M R, Gonzalez-Menenses A, Rodriguez-Criado G, Mila M, Liehr T, Fuster C.: Characterization of a complex cryptic mosaicism for an sSMC derived from the X chromosome present in a boy with congenital malformations. AJMG Part A: DOI=10.1002/ajmg.a.33638, 2010. [PubMed: 20814948]47,XY,+der(X)(:p11.1->q11.1::q11.1-p11.1:)[6]/47,XY,+der(X)(p11.2?2->q11.1::q11.1->p11.1:)[4]/47,XY,+der(X)(:p11.1->q11.1:)[2]/47,XY,+der(X)(:p11.?3->q10::p?->p?:)[1].Patient was 13 years old.Aberration: IsochromosomeChromosomal Aneuploidy: Xp+;Xq+Index Terms: sSMC(X)
- Smith N M, Fernandez H, Chambers H M, Callen D F: "Necropsy findings in a fetus with a 46,XY,dic t(X;21)(p11.1;p11.1)." J. Med. Genet. 29:503-506, 1992. [PMC free article: PMC1016031] [PubMed: 1640434]46,XY,dic t(X;21)(p11.1;p11.1)de novo.Aberration: Dicentric chromosomeIndex Terms: NecropsyVariable band
Publication Details
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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-. 0Xp111.