05q333

5q33.3

Publication Details

  • Barnes I C S, Maltby E L: Prometaphase chromosome analysis as a routine diagnostic technique. Clin. Genet. 29:378-383, 1986. [PubMed: 3742844]
    Case No. 2a and 2b(delayed development+odd facies).
    46,XX,t(5;13)(q333;q32).&"46,XX,-13,+der(13),t(5;13)(q333;q32)."
    Aberration: Simple translocation
    Index Terms: Face ... anomalies
    Negative band

  • Schiffer C, Popp S, Moshir S, Rupprath G, Dungfelder E, Hager H-D, Tariverdian G, Jauch A.: Multicolor chromosomal bar coding characterizes a de novo interstitial deletion (5)(q33.3q35.2) in a child with multiple congenital malformations. Clin. Dysmorphol. 12:129-131, 2003. [PubMed: 12868477]
    46,XY,del(5)(q33.3q35.2)de novo
    Infant died at the age of 2 months after cardiac surgery.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 5q-

  • Shiihara T, Kato M, Kimura T, Hayasaka K, Yamamori S, Ogata T.: Craniosynostosis with extra copy of MSX2 in a patient with partial 5q-trisomy. AJMG DOI=10.1002.ajmg.a.20552, 2004. [PubMed: 15214020]
    46,XX,der(13)t(5;13)(q33.3;q34)mat.ish(MSX2+++;Tel13q-).
    The 2-year-old girl had craniosynostosis, atrial septal defect, and patent ductus arteriosus.
    Aberration: Reciprocal translocation
    MIM#: 604757
    Chromosomal Aneuploidy: 5q+;13q-
    Index Terms: Craniosynostosis Boston type,MSX2, AVS, PDA

  • Witters I, van Buggenhout G, Moerman P, Fryns J-P.: Prenatal diagnosis of de novo distal 5q duplication associated with hygroma colli, fetal oedema and complex cardiopathy. Prenat. Diag. 18:1304-1307, 1998. [PubMed: 9885024]
    46,XX,inv dup(5)(pter->q35.3::q35.3->q33.3::q35.3->qter)de novo
    IUGR of 14 weeks at 16 weeeks, nuchal translucency, hygroma colli, ventricle septum defect and right choroid plexus cyst. IUFD at 19 weeks.
    Aberration: Duplication
    Chromosomal Aneuploidy: 5q+