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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-.

Cover of Chromosomal Variation in Man

Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].

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08q220

8q22
  • Baumeister F A M, Egger J, Schildhauer M T, Stengel-Rutkowski S: "Ambras syndrome: delineation of a unique hypertrichosis universalis congenita and association with a balanced pericentric inversion (8) (p11.2;q22)." Clin. Genet. 44:121-128, 1993. [PubMed: 8275569]
    Tadin-Strapps M, Warburton D, Baumeister F A M, Fischer S G, Ypnan J, Gilliam T C, Christiano A M. : Cloning of the breakpoints of a de novo inversion of chromosome 8, inv(8)(p11.2q23.1) in a patient with Ambras syndrome. Cytogenet. Genome Res. 107:68-76, 2004. [PubMed: 15305058]
    Patient M.E.
    46,XX,inv(8)(p11.2q22)de novo.
    It is suggested that since no gene has been disrupted, the phenotype is caused by a position effect.
    Aberration: Inversion pericentric
    MIM#: 145700
    Index Terms: Ambras syndrome,Hypertrichosis universalis congenita
  • Same entry as in 02p130,08q110 (Boue and Gallano, 1984).
  • 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]
    Boue J, Boue A, Girard S, Thepot F: Diagnostic prenatal des anomalies chromosomiques. Arch. Fr. Ped. 33:653-664, 1976. [PubMed: 999438]
    t(8;16)(q22;q23).,46,XY,t(8;13)(q22;q32).
    Aberration: Reciprocal translocation
    Negative band
  • Chaabouni H, Chaabouni M, Maazoul F, M''Rad R, Jemma L B, Smaoui N, Terras K, Kammoun H, Belghith N, Ridene H, Oueslati B, Zouari F.: Prenatal diagnosis of chromosome disorders in Tunisian population. Ann. Genet. 44:99-104, 2001. [PubMed: 11522249]
    46,t(8;10)(q22;q25).
    There is no mention about which arm of chromosome 10 is involved.
    Aberration: Simple translocation
    Index Terms: Tunisian
  • Chudley A E, Ray M, Evans J A, Cheang M: Possible association of rare autosomal folate sensitive fragile sites and idiopathic mental retardation: a blind controlled population study. Clin. Genet. 38:241-256, 1990. [PubMed: 2268971]
    MR # 266 and MR # 401.
    46,XX and XY, fra(8)(q22).
    Aberration: Fragile sites
    Negative band
  • Crandall B, 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. 821.
    46,XY,t(8;16)(q22;p13)pat.
    Aberration: Reciprocal translocation
    Negative band
  • D''Avanzo M G, Colantuoni M, Sirone P, de Castris L, Perone L, Fiore M, Ventruto V: Double independent balanced translocation in a girl with mild phenotypical stigmata. Ann. Genet. 29:62-64, 1986. [PubMed: 3487281]
    Patient was 30 months old with hyposomia, retarded bone age, slightly dysmorphic ear.
    46,XX,t(1;7)(q44;q22),t(8;10)(q22;q26).
    Aberration: Double translocation
    Index Terms: Ears ... anomalies (dysmorphic),Hyposomia
    Negative band
  • De Arce M A, Grace P M, McManus S: A computer model for the study of segregation in reciprocal translocation carriers: application to 20 new cases. AJMG 24:519-525, 1986. [PubMed: 3755291]
    t(8;10)(q22;p13).
    Aberration: Reciprocal translocation
    Negative band
  • Digilio M C, Angioni A, Giannotti A, Dallapiccola B, Marino B.: Truncus arteriosus and duplication 8q. AJMG DOI=10.1002/ajmg.a.20054;121A:79-81, 2003. [PubMed: 12900908]
    Mother=46,XX,t(8;10)(q22;q26).,Proband=46,XX,der(10)t(8;10)(q22;q26)mat.
    The neonate had multiple minor anomalies and truncus arteriosus. The baby died at 49 days of life.
    FISH with N25 detected two normal diploid signals on nuclei and metaphases excluding a 22q11.2 microdeletion.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 8q+
    Index Terms: Truncus arteriosus
  • Hagerman R, Berry R, Jackson A W III, Campbell J, Smith A C M, McGavran L: Institutional screening for the fragile X syndrome. AJDC 142:1216-1221, 1988. [PubMed: 3177330]
    Case 9
    46,XX,inv dup(8)(q22qter).
    Aberration: Duplication
    Negative band
  • Higgins J V, Center J, 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 Nos. 829 and 830.
    46,XX,t(8;20)(q22;p11)mat.
    Aberration: Reciprocal translocation
    Negative band
  • Junge A, Domke N, Tolkendorf E: Cytogenetic investigation of peripheral lymphocyte cultures in couples with habitual abortions. Zent. Bl. Gynakol. 113:1046-1058, 1991. [PubMed: 1962519]
    Patient 5.
    46,XY,t(8;18)(q22;q23).
    Aberration: Reciprocal translocation
    Index Terms: Habitual abortions
    Negative band
  • Kotzot D, Martinez M-J, Bagci G, Basaran S, Baumer A, Binkert F, Brecevic L, Castellan C, Chrzankowska K, Dutly F, Gutkowska A, Karauzum S B, Krajewska-Walasek M, Luleci G, Miny P, Riegel M, Schuffenhauer S, Seidel H, Schinzel A.: Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications. J. Med. Genet. 37:281-286, 2000. [PMC free article: PMC1734569] [PubMed: 10745046]
    Case 10:
    46,XY,dup(8)(q22q24.3)pat
    Aberration: Duplication
    Chromosomal Aneuploidy: 8q+
  • Laurent C, Biemont M C, Midenet M, Couturier P, Dutrillaux B: Chromosome 13p+ identified by several banding techniques. Lyon Med. 232:609-615, 1974.
    46,XX/46,XX,-13,+t(8;13)(q22;p1).,46,XX/46,XX,-13,+t(8;13)(13qter->13p1::8q22->8qter).,46,XX and XY,-13,+der(13)t(8;13)(q22;p1)mat.
    Aberration: Simple translocation
    Negative band
  • Lejeune J, Rethore M O, Dutrillaux B, Martin G M: Translocation 8-22 sans changement de longueur et trisomie partielle 8q. Exp. Cell Res. 74:293-295, 1972. [PubMed: 5073314]
    46,XX,t(8;22)(q22;p11).,46,XX,t(8;22)(8pter->8q22::22p11->22pter;,22qter->22p11::8q22->8qter).,47,XY,+der(22)t(8;22)(q22;p11)mat.
    Aberration: Reciprocal translocation
    Negative band
  • Madan K, Seabright M, Lindenbaum R H, Bobrow M: Paracentric inversions in man. J. Med. Genet. 21:407-412, 1984. [PMC free article: PMC1049338] [PubMed: 6392555]
    Case 8.
    46,XX,inv(8)(q22q24).
    Aberration: Inversion paracentric
    Negative band
  • Neel B G, Jhanwar S C, Chaganti R S K, Hayward W S: Two human c-onc genes are located on the long arm of chromosome 8. PNAS 79:7842-7846, 1982. [PMC free article: PMC347445] [PubMed: 6961456]
    Assignment has been made of c-mos gene on band 8q22.
    Negative band
  • Puvabanditsin S, Garrow E, Rabi F A, Titapiwatanakun R, Kuniyoshi K M.: Partial trisomy 8q and partial monosomy 18p: a case report. Ann. Genet. 47:399-403, 2004. [PubMed: 15581839]
    46,XY,der(18)t(8;18)(18qter->18p11.2::8q22->8qter)mat.,46,XX,t(8;18)(q22;p11.2).
    The infant was 7 months old and was mildly delayed in growth and development, and had congestive heart failure.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 8q+;18p-
  • Samadder P, Evans J A, Chudley A E: Segregation analysis of rare autosomal folate sensitive sites. AJMG 46:165-171, 1993. [PubMed: 8484403]
    The authors found a deficiency of offspring expressing fragile sites when transmission was through fathers, suggesting gametic selection or the phenomenon of parental genomic imprinting.
    Aberration: Fragile sites
    Negative band
  • Sangha K K, Stephenson M D, Brown C J, Robinson W P.: Extremely skewed X-chromosome inactivation is increased in women recurrent spontaneous abortion. AJHG 65:913-917, 1999. [PMC free article: PMC1377996] [PubMed: 10441596]
    46,XX,t(8;12)(q22;q22)
    Aberration: Reciprocal translocation
  • Townes P L, White M R: Inherited partial trisomy 8q(q22 to qter). AJDC 132:498-501, 1978. [PubMed: 645677]
    46,XX,t(8;15)(q22;cent).,46,XX,t(8;15)(8pter->8q22:;8qter->8q22::15cen->15qter).,46,XY,-15,+der(15)t(8;15)(8qter->8q22::15cen->15qter).
    Aberration: Simple translocation
    Negative band
  • van den Ouweland A M W, de Vries B B A, Bakker P L G, Deelen W H, de Graaff E, van Hemel J O, Oostra B A, Niermeijer M F, Halley D J J: DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reversal of mutation in the FMR-1 gene. AJMG 51:482-485, 1994. [PubMed: 7943024]
    Patient 5:
    46,XY,dup(8)(q22->qter).
    Aberration: Duplication
    Chromosomal Aneuploidy: 8q+
    Negative band
  • Wakui K, Ohashi H, Yamagishi A, Hamano S I, Nara T, Ishikiriyama S, Nakamura Y, Fukushima Y.: Interstitial duplication 8q22-q24: report of a case proven by FISH with mapped cosmid probes. AJMG 65:36-39, 1996. [PubMed: 8914738]
    46,XX,dup(8)(pter->q24::q22->q24::q24->qter)de novo.
    The 6 month old had MCA and mild delay in developmental milestones.
    Cosmid probe cC18-1173 was used to demonstrate duplication of the 8q23 region.
    Aberration: Direct duplication
    Chromosomal Aneuploidy: 8q+
    Negative band
  • Same entry as in 04p160,0Xq260 (Warburton D, 1991).
  • Warburton D: De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. AJHG 49:995-1013, 1991. [PMC free article: PMC1683246] [PubMed: 1928105]
    46,XY,t(8;10)(q22;p13).
    Aberration: Reciprocal translocation
    Negative band
  • Wilson W G, Wyandt H E, Shah H: Interstitial deletion of 8q. Occurrence in a patient with multiple exostoses and unusual facies. AJDC 137:444-448, 1983. [PubMed: 6601906]
    Patient was 18 years old; parental karyotypes were normal.
    46,XX,del(8)(pter -> q22::q24.1 -> qter).
    Aberration: Interstitial deletion
    Index Terms: Face ... anomalies
    Negative band
  • Zabel B U, Baumann W A: Langer-Giedion syndrome with interstitial 8q- deletion. AJMG 11:353-358, 1982. [PubMed: 7081298]
    Patient was 12 years old, parental karyotypes were normal. There appears to be a relationship of band 8q22 with Langer-Giedion syndrome or tricho-phalangeal syndrome II.
    46,XX,del(8)(pter -> q22::q234 -> qter).
    Aberration: Interstitial deletion
    MIM#: 150230
    Index Terms: Langer-Giedion syndrome
    Negative band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105771
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