08p210

8p21

Publication Details

  • 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(8;9)(p21;p24); t(8;10)(p21;q26); t(8;14)(p21;q32).
    Aberration: Reciprocal translocation
    Negative band

  • Brocker-Vriends A H J T, Mooij P D, Van Bel F, Beverstock G C, Van de Kamp J J P: Monosomy 8p: an easily overlooked syndrome. J. Med. Genet. 23:153-154, 1986. [PMC free article: PMC1049570] [PubMed: 3712390]
    Two cases are presented, one died after 5 years and another after 3 days.
    46,XX,del(8)(qter -> p21:).
    Aberration: Terminal deletion
    Negative band

  • Brocker-Vriends A H J T, van de Kamp J J P, Geraedts J P M, Nijenhuis Th A: "Unbalanced karyotype with normal phenotype in a family with translocation (8;13)(p21;q22)." Clin. Genet. 27:487-495, 1985. [PubMed: 4006274]
    Individual II-3 in the family.
    46,XY,-8,+der(8)t(8;13)(8qter -> 8p21::13q22 -> 13qter)pat,t(2;19)(q21;q13)de novo.
    Individual III-2 in the family.
    46,XX,-8,+der(8)t(8;13)(8qter -> 8p21::13q22 -> 13qter)mat.
    Individuals I-1, II-1, II-4 in the family.
    46,XX and XY,t(8;13)(p21;q22).
    Individuals II-5 and III-1 in the family.
    46,XX and XY,-13,+der(13)t(8;13)(13pter -> 13q22::8p21 -> 8pter)mat and pat.
    Aberration: Simple translocation
    Negative band

  • Clark C E, Telfer M A, Cowell H R: A case of partial trisomy 8p resulting from a maternal balanced translocation. AJMG 7:21-25, 1980. [PubMed: 7211950]
    46,XX,t(8;10)(p21;p15).&"46,XX,t(8;10)(8qter -> 8p21::10p15 -> 10pter;10qter -> 10p15::8p21 -> 8pter)."&"46,XX and XY,der(8)der(10)t(8;10)(p21;p15)mat."
    Patient, 121555, was 21 years old.
    46,XX,-10,+der(10)t(8;10)(p21;p15)mat.
    Aberration: Reciprocal translocation
    Negative band

  • Cooke S L, Northrup J K, Champaigne N L, Zinser W, Edwards P A W, Lockhart L H, Velagati G P N.: Molecular cytogenetic characterization of a unique and complex de novo 8p rearrangement. AJMG Part A: DOI=10.1002/ajmg.a.32248, 2008. [PubMed: 18302246]
    46,XX,der(8)dir dup(p21p23.1)del(8)(p23.1pter)dn.ish der(8)dir dup(8)(p21p23.1)del(8)(p23.1pter)(wcp8+,pter-).arr cgh8p21p23.1(G248P85500C10->RP11-351121) x 3,8p23.1p23.1(RP11-481A20->RP11-1130G3) x 2,8p23.1pter(RP11-143D15->RP11-585F1) x 1.
    Patient was 4 years old with IUGR, seizures and respiratory tract infections.
    Aberration: DU,INV
    Chromosomal Aneuploidy: 8p+

  • Cooke S L, Northup J K, Champaige N L, Zinser W, Edwards P A W, Lockhart L H, Velagaleti G V N.: Molecular cytogenetic characterization of a unique and complex de novo 8p rearrangement. AJMG Part A: DOI=10.1002/ajmg.a.32248, 2008. [PubMed: 18302246]
    46,XX,der(8)(p21p23.1)del(8)(p23pter).ish der(8)dir dup(8)(p21p23.1)del(8)(p23.1pter)(wcp8+).arr cgh 8p21p23.1(G248P85500C10->RP11-351121) x 3, 8p23.1p23.1(RP11-481A20->RP11-1130G3) x 2, 8p23.1pter(RP11-143D15->RP11-585F1) x 1.
    The patient was 4 years old with dysmorphic features and developmental delay.
    Aberration: Duplication
    Chromosomal Aneuploidy: 8p+

  • de la Chapelle A, Icen A, Aula P, Leisti J, Turleau C, de Grouchy J: Mapping of the gene for glutathione reductase on chromosome 8. Ann. Genet. 19:253-256, 1976. [PubMed: 1087855]
    Three patients with mosaic trisomy 8 showed increased levels of GR. Fourth patient with a deletion enabled tentative assignment of the gene to region 8p21 to 8p23.
    46,XX,del(8)(p21).&46,XX,del(8)(qter -> p21:).
    Aberration: Terminal deletion
    MIM#: 138300
    Negative band

  • de la Chapelle A: Personal communication, 1978.
    46,XY,t(8;10)(8pter -> 8p21::10p13 -> 10qter;10pter -> 10p13::8p21 -> 8qter).
    Aberration: Reciprocal translocation
    Negative band

  • Devriendt K, Van Schoubroeck D, Eyskens B, Gewillig M, Vandenberghe K, Fryns J P.: Prenatal diagnosis of a terminal short arm deletion of chromosome 8 in a fetus with an atrioventricular septal defect. Prenat. Diag. 18:65-67, 1998. [PubMed: 9483642]
    46,XY,del(8)(p21->pter)de novo
    At 30 weeks of gestation, the fetus showed growth retardation, a hypoplastic right ventricle, and an unbalanced atrioventricular septal defect. Blalock-Taussig shunt was performed at the age of 6 months.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 8p-
    Index Terms: Atrioventricular septal defect (AVSD)

  • Digilio M C, Giannotti A, Marino B, Dallapiccola B: Atrioventricular canal and 8p- syndrome. AJMG 47:437-438, 1993. [PubMed: 8135296]
    Digilio M C, Marino B, Guccione P, Giannotti A, Mingarelli R, Dallapiccola B.: Deletion 8p syndrome. AJMG 75:534-536, 1998. [PubMed: 9489800]
    The 1998 paper includes data on 6 addiontal cases and also reviews the literature. It is suggested that this karyotypic abnormality may be missed in reading metaphases. Patients with CHD, especially AVC, associated with MR, and hypospadias are good candidates for a careful evaluation.
    46,XY,del(8)(p21)de novo.
    The baby had MCA and psychomotor development was delayed. Two-dimensional echocardiography demonstrated a complete AVC, valvular pulmonic stenosis, and hypoplastic right ventricle.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 8p-
    Index Terms: Atrioventricular canal
    Negative band

  • Ferguson-Smith M A, Aitken D A, Turleau C, de Grouchy J: Localisation of the human ABO:Np-1:AK-1 linkage group by regional assignment of AK-1 to 9q34. Hum. Genet. 34:35-43, 1976. [PubMed: 184030]
    46,XX,t(8;9)(p21;q12).&"46,XX,t(8;9)(8qter -> 8p21::9q12 -> 9qter;9pter -> 9q12::8p21 -> 8pter)."
    Case 4 (WK) in this report.
    47,XX,+der(9)t(8;9)(p21;q12)mat.
    Aberration: Reciprocal translocation
    Negative band

  • Fineman R M, Ablow R C, Breg W R, Wing S D, Rose J S, Rothman S L G, Warpinski J: Complete and partial trisomy of different segments of chromosome 8: Case reports and review. Clin. Genet. 16:390-398, 1979. [PubMed: 527246]
    Patient 4 in this report.
    46,XY,t(8;18)(q23;q23).&"46,XY,rec(18),dup q,t(8;18)(q23;q23)pat."
    Patient 6 in this report.
    46,XX,t(8;10)(p21;q26).&"46,XX,rec(10),dup p,t(8;10)(p21;q26)mat."
    Aberration: Simple translocation
    Negative band

  • Garnham I, Sutherland G R: Three years'' diagnostic experience with direct karyotyping of neonatal blood. Clin. Genet. 38:371-373, 1990. [PubMed: 2149307]
    Sample No. 4.
    46,XX,t(8;15)(p21;q22).
    Direct karyotyping of cord and neonatal venous blood is emphasized.
    Aberration: Reciprocal translocation
    Index Terms: Direct karyotyping,Cord blood
    Negative band

  • Guanti G, Mollica G, Polimeno L, Maritato F: rDNA and acrocentric chromosomes in man. I. rDNA levels in a subject carrier of 8p/13p balanced translocation and in his unbalanced son. Hum. Genet. 33:103-107, 1976. [PubMed: 939562]
    46,XY,t(8;13)(p21;p12).&"46,XY,t(8;13)(8qter -> 8p21::13p12 -> 13pter;13qter -> 13p12::8p21 -> 8pter)."&"46,XX,-8+der(8)t(8;13)(p21;p12)pat."
    Aberration: Reciprocal translocation
    Negative band

  • Gutensohn W, Rodewald A, Haas B, Schulz P, Cleve H: Refined mapping of the gene for glutathione reductase on human chromosome 8. Hum. Genet. 43:221-224, 1978. [PubMed: 689688]
    Rodewald A, Stengel-Rutkowski S, Schulz P, Cleve H: New chromosomal malformation syndromes. I. Partial monosomy 8p. An attempt to establish a new chromosome deletion syndrome. Europ. J. Ped. 125:45-57, 1977. [PubMed: 870324]
    46,XY,del(8)(p212).
    Patient, 000068, in this report.
    46,XYdel(8)(p21).&46,XY,del(8)(qter -> p21:).&The patient (N.G.) now a 9 year old was described earlier by Rodewald et al, 1977. The gene for this enzyme (G.R.) is mapped in the region 8p2100-8p212.
    Aberration: Terminal deletion
    MIM#: 138300
    Negative band

  • Hongell K, Knuutila S, Westermarck T: Two cases of an abnormal short arm of chromosome 8(8p+) associated with mental retardation. Clin. Genet. 13:237-240, 1978. [PubMed: 627113]
    Case 1 (000053) in this report.
    46,XY,dup (8p)(p21 -> p23).
    Aberration: Duplication
    Negative band

  • Jalal S M, Law M E, Christensen E R, Spurbeck J L, Dewald G W: Method for sequential staining of GTL-banded metaphases with fluorescent-labeled chromosome specific paint probes. AJMG 46:98-103, 1993. [PubMed: 8494038]
    Case 5:
    46,XX,t(8;12)(p21;q22).
    The tissue sample came from a spontaneous abortus. The mother had a history of multiple miscarriages.
    Chromosome specific paint for 8 was used.
    Aberration: Simple translocation
    Index Terms: Chromosome specific paints CSP
    Negative band

  • Lubs H A, Lubs M L: New cytogenetic technics applied to a series of children with mental retardation. Nobel Symposium 23:241-250, 1973.
    46,XX,t(8;10)(p21;q26).
    Patient No. 3 in this report.
    46,XX,-8,+der(8)(p21)mat.&46,XX,-8,+der(8)(8qter -> 8p21:)mat.&See comments in entry of Orye and Craen (1976) under 08p000.
    Aberration: ST,TD
    Negative band

  • Moreno-Fuenmayor H, Meilinger K L, Rucknagel D L, Mohrenweiser H L, Chu E H Y: Duplication 8p syndrome: Studies in a family with a reciprocal translocation between chromosomes 8 and 12. AJMG 7:361-368, 1980. [PubMed: 7468661]
    46,XX and XY,der(8)der(12)t(8;12)(p21;p13)mat and pat.,46,XX and XY, der(8)der(12)t(8;12)(8qter->8p21::12p13->12pter;,12qter->12p13::8p21->8pter)mat and pat.,46,XX and XY,der(12)t(8;12)(p21;p13)mat and pat.
    Patients MW, 121056, MP, 072369, and RG, 031975, in this family with five generations were studied.
    Aberration: Reciprocal translocation
    Negative band

  • Mutton D E, Lea J: Chromosome studies of children with specific speech and language delay. Develop. Med. Child Neurol. 22:588-594, 1980. [PubMed: 6449396]
    46,XY,inv(8)(p21q22).
    Aberration: Inversion pericentric
    Index Terms: Language deficit ... delayed
    Negative band

  • Patil S R, Hanson J W: Partial 8p- syndrome. J. Genet. Hum. 28:123-129, 1980. [PubMed: 7205196]
    Patient was 2 years old, mother was 30 and father was 37 years old respectively. Chromosomes of parents were normal.
    46,XX,del(8)(p21).&46,XX,del(8)(qter -> p21:).
    Aberration: Terminal deletion
    Negative band

  • Pfeiffer R A, Kessel E K, Rathgen E, Kulenkampff M, Nehring T: Mosaicism for an additional partial chromosome 8: 46,XX/47,XX,+der(8)(p21 to qter). Hum. Genet. 44:207-212, 1978. [PubMed: 730165]
    46,XX/47,XX,+der(8)(:p21 -> qter).&A 12-year-old female patient with mosaicism of an additional deleted chromosome 8 is reported. She exhibits broad face with characteristic shape of nose, lips and ears which are characteristic of the trisomy-8 syndrome. Although typical, these are minor features of trisomy 8. Other features of this patient are limited mobility of joints, obviously progressive, poorly shaped trunk and limbs, various skeletal dysplasias, particularly of the spine, 13 ribs, abnormal dermatoglyphics, and odd physiognomic features. Her intelligence is subnormal.
    Aberration: Terminal deletion
    Index Terms: Ears ... accessory,Face ... broad, round flat,Joints ... restricted,Ribs ... anomalies
    Negative band

  • Redha A A, Krishna Murthy D S, Kandil H, Farag T I, Usha R, Al-Awadi S A, Jeryan L A, Al-Nagdy K, El-Ghanem M.: Partial trisomy of short arm of chromosome 8 (46,XY,inv dup(8)(p21->pter) in a Bedouin child with multiple congenital anomalies and mental retardation. Ind. J. Pediat. 61:301-306, 1994. [PubMed: 7960007]
    The patient was 4 years old, 270288.
    46,XY,inv dup(8)(qter->p23::p21->pter)
    Aberration: Duplication
    Chromosomal Aneuploidy: 8p+
    Index Terms: Bedouin

  • Sachs E S, Jahoda M G J, Kleijer W J, Pijpers L, Galjaard H: Impact of first-trimester chromosome, DNA, and metabolic studies on pregnancies at high genetic risk: experience with 1,000 cases. AJMG 29:293-303, 1988. [PubMed: 3354601]
    Sachs E S, Jahoda M G J, Van Hemel J O, Hoogeboom A J M, Sandkuyl L A: Chromosome studies of 500 couples with two or more abortions. Obst. Gynecol. 65:375-378, 1985. [PubMed: 3974963]
    Cases 18 and 19: 85-266 and 86-53.
    The fetal karyotype was unbalanced.
    46,XY,t(8;11)(p21;q24).&"46,-11,+der(11),t(8;11)(11pter -> 11q24::8p21 -> 8pter)pat."
    Aberration: Reciprocal translocation
    Negative band

  • Savary J B, Cousin J, Lai J L, Deminatti M: "Partial trisomy 12 and 8 with mosaicism, associated with translocation t(8;12)(p21;q13)." Ann. Genet. 20:122-127, 1977. [PubMed: 302686]
    Family L. in this report.
    46,XX,der(8)der(12)t(8;12)(p21;q13)mat and pat.
    Patient Christine L., 260873, in this report.
    mos 46,XX,t(8;12)(12qter -> 12q13::8p21 -> 8qter;12pter -> 12q13::8p21 -> 8pter)/47,XX,-8,-12,+der(8),+der(12)+der(12)t(8;12)(p21;q13).
    Aberration: Reciprocal translocation
    Negative band

  • Schinzel A A, Adelsberger P A, Binkert F, Basaran S, Antonarakis S E: No evidence for a paternal interchromosomal effect from analysis of the origin of nondisjunction in Down syndrome patients with concomittant familial chromosome rearrangements. AJHG 50:288-293, 1992. [PMC free article: PMC1682467] [PubMed: 1531165]
    Patient 1.
    46,XX,t(8;18)(p21;q12).
    Aberration: Reciprocal translocation
    Index Terms: Interchromosomal effect
    Negative band

  • Stamberg J, Thomas G H: Unusual supernumerary chromosomes: types encountered in a refereed population, and high incidence of associated maternal chromosome abnormalities. Hum. Genet. 72:140-144, 1986. [PubMed: 3455921]
    Case 2:
    Mother: 46,XX,t(8;9)(p21;q22).&"Patient: 47,+der(9),t(8;9)(9pter -> 9q22::8p21 -> 8pter)mat."
    Aberration: Reciprocal translocation
    Negative band

  • Suciu S: 46,XX/46,XX,8p- mosaicism in a phenotypically normal female. Ann. Genet. 28:123-124, 1985. [PubMed: 3876062]
    Patient T.A. was 25 years old; was karyotyped because she had two miscarriages (2nd and 4th pregnancies); and had two normal children.
    mos46,XX/46,XX,del(8)(p21 -> pter).
    Aberration: Terminal deletion
    Negative band

  • Taillemite J L, Channarond J, Tinel H, Mulliez N, Roux C: Partial deletion of the short arm of chromosome 8. Ann. Genet. 18:251-255, 1975. [PubMed: 1083196]
    Subject Jean-Luc in this report.
    46,XY,del(8)(p21).&46,XY,del(8)(qter -> p21:).
    Aberration: Terminal deletion
    Negative 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 2 was ascertained because of 7 consecutive spontaneous abortions.
    46,XX,t(8;20)(p21;p11.2).
    Aberration: Reciprocal translocation
    Index Terms: SKY

  • Taylor K M, Francke U, Brown M G, George D L, Kaufhold M: Inverted tandem (''Mirror'') duplications in human chromosomes: inv dup 8p, 4q, 22q. AJMG 1:3-19, 1977. [PubMed: 610424]
    Patient #2 (DT 030374) in this report.
    46,XY,inv dup(8)(pter -> p23::p21 -> p23::p23 -> qter).&Both parents and a clinically normal sister had normal karyotypes. The 2 year old patient had bilateral epicanthal folds, prominent nasal bridge, hypotelorism and variable, alternating esotropia, distal tapering of fingers.
    Aberration: Duplication
    Index Terms: Epicanthal folds,Esotropia ... alternating,Fingers ... tapered,Hypotelorism
    Negative band