04q240

4q24

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]
    Boue J, Boue A, Girard S, Thepot F: Diagnostic prenatal des chromosomiques. Arch. Fr. Ped. 33:653-664, 1976. [PubMed: 999438]
    t(4;10)(q25;q26).&"46,XX,t(4;18)(q25;p11)."
    Aberration: Reciprocal translocation
    Positive band

  • Chandley A C, Edmond P, Christie S, Gowans L, Fletcher J M, Frackiewicz A, Newton M S: Cytogenetics and infertility in man. 1. Karyotype and seminal analysis. Results of a five-year survey of men attending a subfertility clinic. Ann. Hum. Genet. 39:231-254, 1975. [PubMed: 1052767]
    Case R.S. (PK 253/131/73) in this report.
    46,XY,t(4;7;15)(q24;q22;q24).&"46,XY,t(4;7;15)(4pter -> 4q24::15q24 -> 15qter;7pter -> 7q22::4q24 -> 4qter;15pter -> 15q24::7q22 -> 7qter)."&Apparently a newly arisen rearrangement.
    Aberration: Complex translocation
    Index Terms: Sterility ... male
    Positive band

  • Giardino D, Corti C, Ballarati L, Finelli P, Valtorta C, Botta G, Giudici M, Grosso E, Larizza L.: Prenatal diagnosis of a de novo complex chromosome rearrangement (CCR) mediated by six breakpoints, and a review of 20 prenatally ascertained CCRs. Prenat. Diag. 26:565-570, 2006. [PubMed: 16683274]
    46,XX,t(4;10;20)(q24;q26;q13.3)dn.ish t(4;10;20)(q24;q26;q13.3),ins(4;8)(q?;??)(wcp4+,RP11-183B1+,wcp20+;wcp10+,RP11-183B1+,wcp4+.wcp8+,wcp4+,wcp20+,wcp10+). Other tissues obtained at autopsy confirmed the presence of CCR.
    Amniocentesis was done on a 38 year old woman because of her age. Pregnancy was terminated and the fetus showed MCA.
    Aberration: Complex translocation
    Index Terms: CCR

  • Kitsiou-Tzeli S, Hallett J J, Atkins L, Latt S A, Holmes L B: correction AJMG 19:825, 1984,1984. [PubMed: 6237580]
    Park J P, Graham J M, Jr, Wurster-Hill D H: "Familial t(4;21)(q2.4;q2.2) leading to an unbalanced offspring with the Down syndrome." AJMG 25:399-402, 1986. [PubMed: 2946227]
    The recent report is that of another relative.
    46,XX,t(4;21)(q24;q22).&"47,XX,+der(21)t(4;21)(q24;q22)mat."
    Aberration: Simple translocation
    Index Terms: Down syndrome (Trisomy 21)
    Positive band

  • Rinaldi R, De Bernardo C, Assumma M, Grammatico B, Buffone E, Poscente M, Grammatico P.: Cytogenetic and molecular characterization of a de novo 4q24qter duplication and correlation to the associated phenotype. AJMG DOI=10.1002/ajmg.a.10093; 118A:122-126, 2003. [PubMed: 12655492]
    46,XY,der(14)t(4;14)(q24;p12)dup(4)(q24qter).
    The newborn had severe psychomotor retardation, minor anomalies, CHD, thumb and urogenital abnormalities.
    The breakpoint on chromosome 4 was established between 106.3 and 111cM.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 4q-

  • Schinzel A, Brecevic L, Dutly F, Baumer A, Binkert F, Largo R H.: Multiple congenital anomalies including the Rieger eye malformation in a boy with interstitial deletion of (4)(q25->q27) secondary to a balanced insertion in his normal father: evidence for haplotype insufficiency causing the Rieger malformation. J. Med. Genet. 34:1012-1014, 1997. [PMC free article: PMC1051154] [PubMed: 9429145]
    Father=46,XY,ins(6;4)(q26;q24q26).,Proband=46,XY,der(4)ins(6;4)(q26;q24q26)pat.
    Patient was 7 years old with minor facial anomalies, the Rieger eye malformation, reduced vision, genital anomalies and severe MR.
    The deletion of segment 4q24->q26 in the proband was documented by the use of D4S406, D4S427 and RIEG(D4S194) microsatellite markers.
    Aberration: IX,ID
    MIM#: 180500
    Chromosomal Aneuploidy: 4q-
    Index Terms: Rieger eye malformation

  • Serville F D, Broustet A: Pericentric inversion and partial monosomy 4q associated with congenital anomalies. Hum. Genet. 39:239-242, 1977. [PubMed: 598833]
    A 16-1/2 month-old patient with multiple congenital anomalies is described. Parents karyotypes were normal.&46,XX,del(4),inv(4)(pter -> p16::q24 -> p16::q32 -> qter).&Interstitial deletion of segment q24 -> q32 is believed to have occurred.
    Aberration: Inversion pericentric
    Positive band