05q340

5q34

Publication Details

  • Curry C J R, Longhman W D, Francke U, Hall B D, Golbus M S, Derstine J, Epstein C J: Partial trisomy for the distal long arm of chromosome 5 (region q34 to qter). A new clinically recognizable syndrome. Clin. Genet. 15:454-461, 1979. [PubMed: 445868]
    46,XX,t(5;16)(5pter->5q34::16q24->16qter;,16pter->16q24::5q34->5qter).
    Case I in this report.
    46,XX,der16,t(5;16)(q34;q24)mat.,Physical problems included strabismus, severe dental caries and chronic eczema with frequent secondary superinfections.
    Case II in this report.
    46,XX,der16,t(5;16)(q34;q24)mat.,The physical problems were same as that of Case I. This report describes a family in which eight individuals in three generations had mental retardation in association with a characteristic pattern of clinical problems and physical abnormalities including short stature, eczema, hernias, delayed puberty, dysmorphic facies and digital anomalies.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 5q+
    Index Terms: Dental defects,Eczema,Facial dysmorphism,Hernia,Stature ... short (low),Strabismus

  • Griffin D K, Sanoudou D, Adamski E, McGiffert C, O''Brien P, Wienberg J, Ferguson-Smith M A.: Chromosome specific comparative genome hybridisation for determining the origin of intrachromosomal duplications. J. Med. Genet. 35:37-41, 1998. [PMC free article: PMC1051184] [PubMed: 9475092]
    Aberration: Duplication
    Chromosomal Aneuploidy: 5q+
    Index Terms: CGH

  • Kirchhoff M, Pedersen S, Kjeldsen E, Rose H, Dune M, Kolvraa S, Lundsteen C.: Prospective study comparing HR-CGH and subtelomeric FISH for investigation of individuals with mental retardation and dysmorphic features and an update of a study using only HR-CGH. AJMG 127A:111-117, 2004. [PubMed: 15108196]
    Kirchhoff M, Rose H, Lundsteen C.: High resolution comparative genomic hybridisation in clinical cytogenetics. J. Med. Genet. 38:740-744, 2001. [PMC free article: PMC1734756] [PubMed: 11694545]
    Case No. 36=46,XY,der(6)t(5;6)(q34;q27)mat.,dim(5q34->qter).
    Case ascertained prenatally.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 5q-

  • Schafer I A, Robin N H, Posch J J, Clark B A, Izumo S, Schwartz S.: Distal 5q deletion syndrome: phenotypic correlations. AJMG 103:63-68, 2001. [PubMed: 11562936]
    Maternal grand-father=46,XY,inv ins(1;5)(p32;q35.3q34).,Mother and her two daughters=46,XX,der(1)der(5)inv ins(1;5)(p32;q35.3q34)pat and mat respectively.,Two sibs (TB and GB)=46,XY,der(5)inv ins(1;5)(p32;q35.4q34)mat.
    One sib had microcephaly, cleft lip and palate, facial anomalies, atrial (ASD) and ventricular (VSD) septal defects, camptodactyly of 4th and 5th fingers, and developmental delay. The other sib showed microcephaly, facial anomalies, ASD, hypotonia, primary optic nerve hypoplasia, and developmental delay.
    Aberration: Inverted insertions between chromosomes
    Chromosomal Aneuploidy: 5q-

  • Schonberg S, Golbus M S, 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. 608 to 611.
    46,XX,t(5;16)(q34;q24).,46,XY,der(16),t(5;16)(q34;q24)mat.
    Aberration: Reciprocal translocation
    Positive band

  • Simopoulou M, Harper J C, Fragouli E, Mantzouratou A, Speyer B E, Serhal P, Ranieri D M, Doshi A, Henderson J, Rodeck C H, Delhanty J D A.: Preimplantation genetic diagnosis of chromosome abnormalities: implications from the outcome for couples with chromosomal rearrangements. Prenat. Diag 23:652-662, 2003. [PubMed: 12913872]
    Case A=46,XX,t(5;11)(q34;q25).
    Outcome was a normal live birth.
    Aberration: Reciprocal translocation
    Index Terms: PGD

  • Varela M, 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. 537.
    46,XY,t(5;6)(q34;q27)mat.
    Aberration: Reciprocal translocation
    Positive band

  • 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,XX,t(5;14)(q34;q13).
    Aberration: Reciprocal translocation
    Positive band