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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- Al-Kouatly H B, Chasen S T, Gilbert F, Ahner R, Alonso L M, Chervenak F A.: Correlation between rare chromosomal abnormalities and prenatal ultrasound findings. AJMG 10.1002/ajmg.10130;107:197-200, 2002. [PubMed: 11807899]Case 6=46,XX,dup(8)(p21.1p23.1)de novo.Mother was 35 years old. Dextrocardia was noted and echcardiography revealed situs inversus. D & E was performed, but nonrevealing autopsy.Aberration: DuplicationChromosomal Aneuploidy: 8p+Index Terms: Situs inversus
- Dobyns W B, Dewald G W, Carlson R O, Mair D D, Michels V V: Deficiency of chromosome 8p21.1 to 8pter: Case report and review of the literature. AJMG 22:125-134, 1985. [PubMed: 3901750]46,XY,del(8)(p21.1)de novo.Aberration: Terminal deletionChromosomal Aneuploidy: 8p-Negative band
- Fryns J P, Kleczkowska A, Dereymaeker A M, Hoefnagels M, Heremans M, Heremans G, Marien J, Van den Berghe H: Partial 8p trisomy due to interstitial duplication: karyotype:46,XX,inv dup(8)(p21.1 to p22). Clin. Genet. 28:546-549, 1985. [PubMed: 4075566]
Kleczkowska A, Fryns J P, D''Hondt F, Jaeken J, Van den Berghe H: Partial duplication 8p due to interstitial duplication: inv dup(8) (p21.1 to p22). Further delineation of the phenotype from birth to adulthood. Ann. Genet. 30:47-51, 1987. [PubMed: 3498429]Patient D. D. was 24 years old.46,XX,inv dup(8)(p21.1 -> p22).Patients D.W.J. and E.Q.A. in these reports.46,XY,inv dup(8)(p21.1 -> p22).Aberration: DuplicationNegative band - Jensen P K A, Junien C, Despoisse S, Bernsen A H, Thelle T, Friedrich U, de la Chapelle A: Inverted tandem duplication of the short arm of chromosome 8: a non-random de novo structural aberration in man. Localization of the gene for glutathione reductase in subband 8p21.1. Ann. Genet. 25:207-211, 1982. [PubMed: 6985008]Case 1.46,XY,inv dup(8p)(pter -> 232::p212 -> p232::p232 -> qter).Case 2.46,XX,inv dup(8p)(pter -> p233::p211 -> p233::p233 -> qter).&Parental karyotypes were normal in both cases. Data from the Repository was utilized in this study.Aberration: Inverted insertions within a chromosomeMIM#: 138300Negative band
- Johnson M C, Hing A, Wood M K, Watson M S.: Chromosome abnormalities in congenital heart disease. AJMG 70:292-298, 1997. [PubMed: 9188669]Case 1:46,XX,del(8)(p21.1p22)Anomalies included AVC, Lebers amaurosis, and developmental delay.Aberration: Interstitial deletionChromosomal Aneuploidy: 8p-Index Terms: Congenital heart disease
- Marino B, Reale A, Giannotti A, Digilio M C, Dallapiccola B: Nonrandom association of atrioventricular canal and del(8p) syndrome. AJMG 42:424-427, 1992. [PubMed: 1609823]Patient P.A.46,XY,del(8)(p21.2p23.1)de novo.At age 2 months he was evaluated for his CHD and MCA and was found to have atrioventricular canal.4/7 patients with 8p- have AVC.Aberration: Terminal deletionMIM#: 140400Chromosomal Aneuploidy: 8p-Index Terms: Atrioventricular canal (AVC)Negative band
- Plomp A S, Engelen J J M, Albrechts J C M, de Die-Smulders C E M, Hamers A J H.: Two cases of partial trisomy 8p and partial monosomy 21q in a family with a reciprocal translocation (8;21)(p21.1;q22.3). J. Med. Genet. 35:604-608, 1998. [PMC free article: PMC1051374] [PubMed: 9678708]Individuals II-5 and III-4=46,XX and XY,t(8;21)(p21.1;q22.3).,Individual II-2, patient 1=46,XY,der(21)t(8;21)(p21.1;q22.3).,Individual III-3, patient 2=46,XX,der(21)t(8;21)(p21.1;q22.3)mat.The two patients, aged 51 and 23 years old, differ markedly eventhough the karyotypes are similar.Aberration: Reciprocal translocationChromosomal Aneuploidy: 8p+;21q-
- Poissonnier M, Maroteaux-Chauvet M L, Aurias A, Couillard F: "Hypoplasic du coeur gauche lettiale chez deut germains et translocation chromosomique reciproque (8;11)(p211;p1.53) chez leur mere: difficultes der couseil genetique." J. Genet. Hum. 29:297-319, 1981. [PubMed: 7334351]Patient, C.L., 061277, died.46,XY,t(8;11)(p211;p153).&"46,XX,der(8)der(11)t(8;11)(p211;p153)pat."Aberration: Simple translocationNegative band
- Schmidt R, 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. 794.46,XX,t(8;11)(p21.1;p15)pat.Aberration: Reciprocal translocationNegative band
- Tanemura M, Suzumori K, Nishikawa N, Ishihara Y.: Multicolor spectral karyotyping for complex chromosomal rearrangements in repeated abortion or congenital anomalies. Prenat. Diag. 21:1123-1128, 2001. [PubMed: 11787036]Family 6 was referred because of choroid plexus-like cysts in the fetal brain.46,XX,dup(8)(p21.3p23.1 or p23.1p21.3)de novo.At 37 weeks, a hydrocephalic and floppy female infant was born. There were other MCA.These authors state ''indicating the change to be due to duplication or an inverted duplication of 8q21.3-p21.1''.Aberration: DuplicationChromosomal Aneuploidy: 8p+Index Terms: SKY
- Vermeesch J R, Thoelen R, Salden I, Raes M, Matthijs G, Fryns J-P.: Mosaicism del(8p)/inv dup(8p) in a dysmorphic female infant: a mosaic formed by a meiotic error at the 8p OR gene and an independent terminal deletion event. J. Med. Genet. 40:e93, 2003. [PMC free article: PMC1735569] [PubMed: 12920085]Blood:46,XX,del(8)(p23.3)inv dup(8)(p21.1p23.2)/,46,XX,del(8)(p21.1).,Skin:46,XX,inv dup(8p).The young girl, of Turkish ancestry, was 2 years old, had MCA and severely retarded.Aberration: IP,TDChromosomal Aneuploidy: 8p-;8p+Index Terms: Olfactory (OR) gene clusters
- Wheeler D M, Sinosich M J.: Prenatal screening in the first trimester of pregnancy. Prenat. Diag. 18:537-543, 1998. [PubMed: 9664598]46,XX,inv(8)(p21.1q24.3)A case of maternal age of 33 years and viable offspring.Aberration: Inversion pericentric
- 08p211 - Chromosomal Variation in Man08p211 - Chromosomal Variation in Man
- Orthopelma brevicorne voucher BIOUG03054-D05 cytochrome oxidase subunit 1 (COI) ...Orthopelma brevicorne voucher BIOUG03054-D05 cytochrome oxidase subunit 1 (COI) gene, partial cds; mitochondrialgi|1074934846|gnl|uoguelph|CNEIA896 OI-5P|gb|KR791619.1|Nucleotide
- Zebrafish DNA sequence from clone DKEY-90B24 in linkage group 7, complete sequen...Zebrafish DNA sequence from clone DKEY-90B24 in linkage group 7, complete sequencegi|118511831|emb|CR382281.9|Nucleotide
- cytochrome oxidase subunit I, partial (mitochondrion) [Lyciasalamandra luschani ...cytochrome oxidase subunit I, partial (mitochondrion) [Lyciasalamandra luschani basoglui]gi|582984444|gb|AHI47507.1|Protein
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