08p213

8p21.3

Publication Details

  • Brooks S S, Genovese M, Gu H, Duncan C J, Shanske A, Jenkins E C.: Normal adaptive function with learning disability in duplication 8p including band p22. AJMG 78:114-117, 1998. [PubMed: 9674899]
    Patients 2 (III-21) and 3(III-15):46,X,t(Y;8)(q12;p21.3),.ish t(Y;8)(DYZ3+,DYZ1+,wcp8+;DYZ1,wcp8+).,Patients 4 to 6 (III-16, III-19, IV-10): 46,X,der(Y)t(Y;8)(q12;p21.3),.ish der(Y)t(Y;8)(DYZ3+,DYZ1+,wcp8+).
    An interesting family account of balanced carriers and 8p duplication individuals being productive members of the community.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 8p+
    Index Terms: Learning disability

  • Cockwell A E, James R S, Moore I E, Hatchwell E, Crolla J A.: Clinical outcomes of adjacent 1 segregation in a familial translocation t(8;18)(p21.3;p11.23). J. Med. Genet. 33:515-517, 1996. [PMC free article: PMC1050641] [PubMed: 8782055]
    A five generation family has been reported.
    Proband III-7:46,XX,der(8)t(8;18)(p21.3;p11.23)mat.,Abortus IV-1:46,XY,der(18)t(8;18)(p21.3;p11.23)mat.
    The proband was referred becuase of short stature, webbed neck, CHD, and MR.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 8p-;8p+;18p-;18p+
    Negative band

  • Fan Y-S, Siu V M, Jung J H, Farrell S A, Cote G B.: Direct duplication of 8p21.3->p23.1:: a cytogenetic anomaly associated with developmental delay without consistent clinical features. AJMG 103:231-234, 2001. [PubMed: 11745996]
    Fan Y-S, Siu V M.: Molecular cytogenetic characterization of a derivative chromosome 8 with an inverted duplication of 8p21.3->p23.3 and a rearranged duplication of 8q24.14->qter. AJMG 102:266-271, 2001. [PubMed: 11484205]
    The newborn boy presented with low birth weight, MCA, and dysmorphic face.
    46,XY,der(8)(qter->q24.13::p21.3->p23.3::p23.3->qter).
    He also manifested a broad nasal bridge, micrognathia, cleft lip, hydrocephalus, partial agenesis of the corpus callosum, Dandy-Walker malformation, CHD, dysplastic kidneys, hydronephrosis, marked hypotonia, and significant psychomotor retardation.
    Two families are presented.
    Family 1=46,XY,der dup(8)(p21.3p23.1)mat.,Family 2=46,XX,der dup(8)(p21.3p23.1)pat.,Father=mos46,XY,dup(8)(p21.3p23.1)[6]/46,XY[24].,Patient PL=46,XY,dup(8)(p21.3p23.1).
    Aberration: Duplication
    Chromosomal Aneuploidy: 8q+;8p+

  • Guo W J, Callif-Daley F, Zapata M C, Miller M E.: Clinical and cytogenetic findings in seven cases of inverted duplication of 8p with evidence of a telomeric deletion using fluorescence in situ hybridization. AJMG 58:230-236, 1995. [PubMed: 8533823]
    Case 5:
    46,XX,inv dup (8)(p21.3p23.3)
    Patient was 12 years old with severe MR and MCA.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 8p+
    Index Terms: Telomer ... deletion
    Negative band

  • Morrison P J, Jones J, Nevin N C: Interstitial deletion 8p21.3 to p23.1 in a 6-year-old girl. AJMG 42:678-680, 1992. [PubMed: 1632437]
    46,XX,del(8)(pter -> p23.1::p21.3 -> qter)de novo.
    The was referred for genetic evaluation because of delayed development, mild mental retardation, and an unusual facies.
    The proposita had normal activities of glutathione reductase (GSR) and factor VII.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 8p-
    Index Terms: Glutathione reductase,Factor VII
    Negative band