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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- Aktas D, Alikasifoglu M, Gonc N, Senocak M E, Tuncbilek E.: Isodicentric Y(p11.32) chromosome in an infant with mixed gonadal dysgenesis. Europ. J. Med. Genet. 49: 141-149, 2006. [PubMed: 16530711]mos45,X[50]/46,X,idic(Y)(qter->p11.32::p11.32->qter)[40]/47,X,+2idic(Y)(qter->p11.32::p11.32->qter)x2[4]/47,XYY[6].The 8 month old patient was being evaluated because of undefined sexuality due to ambiguous genitalia.Aberration: DI,ICChromosomal Aneuploidy: Yp+;Yq+Index Terms: Mixed gonadal dysgenesis
- Alves C, Carvalho F, Cremades N, Sousa M, Barros A.: Unique (Y;13) translocation in a male with oligozoospermia: cytogenetic and molecular studies. Europ. J. Hum. Genet. 10:467-474, 2002. [PubMed: 12111641]The 32-year-old man was referred for sever oligozoopsermia.45,X,dic(Y;13)(p1?;p12).ish dic(Y;13)(p11.32;p12),(DYZ3+,SRY+,DXS2Sx2,DXS7059x2;D13Z1x2)[20].Aberration: Simple translocationMIM#: 415000Index Terms: Oligozoospermia
- Codina-Pascual M, Oliver-Bonet M, Navarro J, Starke H, Liehr T, Gutierrez-Mateo C, Sanchez-Garcia J F, Arango O, Egozcue J, Benet J.: FISH characterization of a dicentric Yq (p11.32) isochromosome in an azoospermic male. AJMG DOI=10.1002/ajmg.a.30027, 2004. [PubMed: 15150784]Blood=46,X,idic(qter->p11.32::p11.32->qter)[51.7%]/46,XY[45.6%]/other cell lines[2.7%].,Oral interphase cells=46,X,idic(Y)[62.8%]/46,XY[25.7%]/45,X[6.6%]/others=4.9%].The 37 year-old was referred for infertility.Aberration: DI,ICChromosomal Aneuploidy: Yp-Index Terms: Azoospermi(c)
- Savary J B, Vasseur F, Flactif M, Willatt L, Lefebvre J, Ferguson-Smith M A, Deminatti M M: Cytogenetic and molecular investigations of an abnormal Y chromosome: evidence for a pseudo-dicentric (Yq) isochromosome. Ann. Genet. 35:134-139, 1992. [PubMed: 1466561]Patient Guy D.mos45,X(9.7%)/46,X psu dic(Y)(qter -> cen -> p11.32::p11.32 -> qter)(89.1%)/46,X r der(Y)(0.6%)/47,X psu dic(Y),+psu dic(Y)(0.6%).Patient was 55 years old with small testicles, azoospermia and other anomalies.Aberration: Dicentric chromosomeIndex Terms: AzoospermiaNegative band
- Stankiewicz P, Helias-Rodzewicz Z, Jakubow-Durska K, Bocian E, Obersztyn E, Rappold G A, Mazurczak T.: Cytogenetic and molecular characterization of two isodicentric Y chromosomes. AJMG 101:20-25, 2001. [PubMed: 11343332]Case 2: A.P.47,X,+idic(Y)(q11.23),+i(Y)(p10)[77]/46,X,+i(Y)(p10)[23].The 3 year old patient had mild psychomotor delay.Two copies of SRY gene were found in all cells.The Yq breakpoint maps between sY123 (DYS214) and sY121 (DYS212) loci in interval 50 in AZFb region.Aberration: Dicentric chromosomeNo band
- Tuck-Muller C M, Chen H, Martinez J E, Shen C C, Li S, Kusyk C, Batista D A S, Bhatnagar Y M, Dowling E, Wertelecki W.: Isodicentric Y chromsome: cytogenetic, molecular and clinical studies and review of the literature. Hum. Genet. 96:119-129, 1995. [PubMed: 7607645]mos45,X/46,X,idic(Y)(qter->p11.32::p11.32->qter)/47,X,idic(Y),idic(Y).The patient was an 18-year-old female and studied because of primary amenorrhea and short stature.Aberration: DI,ICChromosomal Aneuploidy: Yp+,Yq+Negative band
- 0Yp1132 - Chromosomal Variation in Man0Yp1132 - Chromosomal Variation in Man
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