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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 0Xp11.2 (Waters et al, 2001).
- 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]inv(6)(p211q25).Aberration: Inversion pericentricNegative band
- Eden M S, Thelin J W, Michalski K, Mitchell J A: Partial trisomy 6p and partial monosomy 9p from a de novo translocation 46,XY,-9,+der(9)t(6:9)(p211:p24). Clin. Genet. 28:375-384, 1985. [PubMed: 4085142]Proband was 23 years old. Parental karyotypes were normal.46,XY,-9,+der(9)t(6;9)(p211;p24).Aberration: Reciprocal translocationChromosomal Aneuploidy: 6p+Negative band
- Johnson M P, Filipovich A H: Cytogenetic studies in Wiskott-Aldrich syndrome: Identification of a case with a 6p chromosome abnormality. AJMG 23:765-773, 1986. [PubMed: 3953675]Patient D. P. was 3 years old.46,XY,inv(6)(p21.1p23).Aberration: Inversion paracentricMIM#: 301000Negative band
- Magenis E, Olson S, In, Daniel A, Hook E B, Wulf G: Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. AJMG 33:14-53, 1989. [PubMed: 2750783]Observation No. 1756.46,XX,inv(6)(p21.1p25)mat.Aberration: Inversion paracentricNegative band
- Morton C C, Brown J A, Kirsch I R, Evans G A, Mohanakumar T, Nance W E: Detection and localization of an extra HLA locus in a karyotypically normal male by chromosomal in situ hybridization. Clin. Genet. 29:62-72, 1986. [PubMed: 3948430]Patient was a healthy 21 years old Black male.The patient was a sibling of an antenatally diagnosed fetus:&"46,XX,dir ins (14;6)(14pter -> 14p11::6p22 -> 6p21.1::14p11 -> 14qter;6pter -> 6p22::6p21.1 -> 6qter)."&46,XY,dup 6p21.3.Aberration: Direct insertion between two chromosomesNegative band
- Ng D, Mowrey P, Ragoussis J, Mirza G, Coll E, Di Fazio M P, Turner C, Levin S W.: Molecularly defined interstitial tandem duplication 6p case with mild manifestations. AJMG 10.1002/ajmg.1577; and 103:320-325, 2001. [PubMed: 11746013]46,XX,dup(6)(p21.1-p22.2).ish dup(6)(wcp6+,D6S299/D6S1691+,,D6S276++,D6S1549++,D6S1604+).The patient was 7 years old with minor dysmorphic features and some developmental problems.Aberration: DuplicationChromosomal Aneuploidy: 6p+
- Paoloni-Giacobino A, Kern I, Rumpler Y, Djlelati R, Morris M A, Dahoun S P.: Familial t(6;21)(p21.1;p13) translocation associated with male-only sterility. Clin. Genet. 58:324-328, 2000. [PubMed: 11076058]Proband=46,XY,der t(6;21)(p21.1;p13)mat.,Three brothers and a sister have the same familial translocation.Only the four male carriers are infertile!Aberration: Reciprocal translocationIndex Terms: Sterility male-only,OligoasthenoteratospermiaNo band
- Phelan M C, Blackburn W, Rogers R C, Crawford E C, Cooley N R, Jr, Schrock E, Ninbg Y, Ried T.: FISH analysis of a complex chromosome rearrangement involving nine breakpoints on chromosomes 6, 12, 14, and 16. Prenat. Diag. 18:1174-1180, 1998. [PubMed: 9854728]46,XX,der(16)t(6;16)(p21.1;q22)del(6)(q15q25),der(12)t(6;12)(q15;q12)t(6;14)(q21;q22),der(14)t(6;14)(p21.1;q22)ins(6;16)(p21.3;q12q22),der(16)t(6;16)(q21;q12)t(6;12)(q25;q12).Case ascertained because of abnormal tripple screen in a 33 year old mother. The pregnancy was terminated after 22 weeks. Facial and skeletal abnormalities were seen in the fetus including dolichocephaly.FISH and SKY analysis was done.Aberration: Complex translocationIndex Terms: SKY in CCR
- Priest J H, In, Daniel A, Hook E B, Wulf G: Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. AJMG 33:14-53, 1989. [PubMed: 2750783]Observation No. 64546,XX,t(6;8)(p21.1;p23.3)mat.Aberration: Reciprocal translocationNegative band
- Purandare S M, Mendoza-Londono R, Yatsenko S A, Napierala D, Scott D A, Sibai T, Casas K, Wilson P, Lee J, Muneer R, Leonard J C, Ramji F G, Lachman R, Li S, Stankiewicz P, Lee B, Mulvihill J J.: De novo three-way chromosome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasia. AJMG Part A: 146A: 4530458, 2008. [PMC free article: PMC2663417] [PubMed: 18203189]46,XY,t(4;6;21)(p16;p21.1;q21)dn.The patient is presently 17 years old and was being followed since age 3 when the translocation was identified.Aberration: Complex translocationMIM#: 119600Index Terms: Cleidocranial dysplasia
- Venditti C P, Seese N K, Gerhard G S, Ten Elshof A E, Chorney K A, Mowrey P N, Lacey P G, Knoll J H M, Chorney M J.: 46,XX,inv(6)(p21.1p23) in a pedigree with hereditary haemochromatosis. J. Med. Genet. 34:24-27, 1997. [PMC free article: PMC1050842] [PubMed: 9032645]46,XX and XY,inv(6)(p21.1p23)Proband and other affected relatives with inversion of 6 and breakpoint close to the region where the gene has been mapped should be useful for positional cloning of the gene.The inversion was present in four individuals in this three generation family.Aberration: Inversion paracentricMIM#: 235200Index Terms: Haemochromatosis hereditaryNegative band
- Villa O, del Campo M, Salido M, Gener B, Astier L, del Valle J, Gallastegui F, Perez-Jurado L A, Sole F.: Small supernumerary marker chromosome causing partial trisomy 6p in a child with craniosynostosis. AJMG PartA: 143A: 1108-1113, 2007. [PubMed: 17431916]47,XY,+mar.sSMC(6)(p21.1->cen)[14]/46,XY[6].The child showed neonatal craniosynostosis, microcephaly, and borderline developmental delay.Chromosomal Aneuploidy: 6p+Index Terms: Craniosynostosis
- 06p211 - Chromosomal Variation in Man06p211 - Chromosomal Variation in Man
- MAG: Staphylococcus phage HS09, partial genomeMAG: Staphylococcus phage HS09, partial genomegi|2559889539|gb|OQ890316.1|Nucleotide
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