050000

5

Publication Details

  • Brzustowicz L M, Allitto B A, Matseoane D, Theve R, Michaud L, Chatkupt S, Sugarman E, Penchaszadeh G K, Suslak L, Koenigsberger M R, Gilliam T C, Handelin B L: Paternal isodisomy for chromosome 5 in a child with spinal muscular atrophy. AJHG 54:482-488, 1994. [PMC free article: PMC1918127] [PubMed: 8116617]
    Aberration: Isodisomy
    MIM#: 253300
    Index Terms: Spinal muscular atrophy

  • Chen E, Cotter P D, Cohen R A, Lachman R S.: Characterization of a long-term survivor with Stuve-Wiedemann syndrome and mosaicism of a supernumerary marker chromosome. AJMG 101:240-245, 2001. [PubMed: 11424139]
    At age 7 years=Blood-mos47,XX,+mar[28]/46,XX[2].,Skin-mos47,XX[17]/46,XX[3].,On the basis of FISH and wcp-der (5)del(5)(?12)del(5)(?q11.2).,UPD could be ruled out.
    The patient is 9 years old, one of the longest survivors with this condition. MCA and very difficult survival period in infancy and throughout childhood.
    MIM#: 601559
    Index Terms: Stuve-Wiedemann syndrome
    No band

  • Doneda L, Gandolfi P, Nocera G, Larizza L.: A rare chromosome 5 heterochromatic variant derived from insertion of 9qh satellite sequences. Chrom. Res. 6:411-414, 1998. [PubMed: 9872671]
    Aberration: Marker chromosome

  • Fujita M, Flori E, Lemaire F, Casanova R, Astruc D: "A new case of ""complete"" trisomy 5p with isochromosome 5p associated with a de novo translocation t(5;8)(q11;p23)." Clin. Genet. 45:305-307, 1994. [PubMed: 7923861]
    46,XY,-5,-8,+t(5;8)(5qter->5q11::8p23->8qter),,+i(5p)de novo."
    Aberration: ST,IC
    Chromosomal Aneuploidy: 5p+
    No band

  • Gosden C, Nicolaides K H, Rodeck C H: Fetal blood sampling in investigation of chromosome mosaicism in amniotic fluid cell culture. Lancet i:613-617, 1988. [PubMed: 2894549]
    46,XY,t(5;17).
    Aberration: Simple translocation
    No band

  • Hahnemann J M, Vejerslev L O.: Accuracy of cytogenetic findings on chorionic villus sampling (CVS)-diagnostic consequences of CVS mosaicism and non-mosaic discrepancy in centrer contributing to EUCROMIC 1986-1992. Prenat. Diag. 17:801-820, 1997. [PubMed: 9316125]
    Sijmons R H, Leegte B, van Lingen R A, de Pater J M, van der Veen A, del Canho H, Bos C, ten Kate L P, Breed A S P M.: Tetrasomy 5p mosaicism in a boy with delayed growth, hypotonia, minor anomalies, and an additional isochromosome 5p [46,XY,/47,XY,+i(5p)]. AJMG 47:559-562, 1993. [PubMed: 7504882]
    mos46,XY/47,XY,+i(5p).
    The one year old had lung hypoplasia, persistent hypotonia, growth failure, and craniofacial anomalies.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 5p+
    No band

  • Kosztolanyi G, Bajnoczky K, Mehes K: Balanced chromosome rearrangements and abnormal phenotype. Acta Paediat. Hung. 31:397-402, 1991. [PubMed: 1790022]
    Case No. 9.
    inv(5)de novo.
    Hypogonadism and micropenis was noticed.
    "The most plausible explanation seems to be a by chance coincidence........".
    Aberration: Simple translocation
    No band

  • Kosztolanyi G, Bajnoczky K, Mehes K: Balanced chromosome rearrangements and abnormal phenotype. Acta Paediat. Hung. 31:397-402, 1991. [PubMed: 1790022]
    Case No. 1.
    t(5;14)pat.
    Some features of Turner syndrome were present.
    "The most plausible explanation seems to be a by chance coincidence........".
    Aberration: Simple translocation
    No band

  • Lorda-Sanchez I, Villa A, Urioste M, Bernal E, Jaso E, Garcia A, Martinez-Frias M L.: Tetrasomy 5p mosaicism due to an extra i(5p) in a severely affected girl. AJMG 68:481-484, 1997. [PubMed: 9021026]
    The infant died at the age of 6 months due to cardiorespiratory failure. She was hospitalized continuously due to feeding difficulties with failure to thrive, recurrent infections, and cardiorespiratory distress.
    The infant was ascertained through the Spanish Collaborative Study of Congenital Malformations (ECEMC).
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 5p+
    No band

  • Masuno M, Imaizumi K, Ishii T, Kimura J, Kuroki Y.: Supernumerary ring chromosome 5 identified by FISH. AJMG 84:381, 1999. [PubMed: 10340657]
    47,XY,+mar de novo[24]/46,XY[26].ish r(5)(wcp5+,D1Z7/D5Z2/D19Z3+).
    The proband was 3 years old with congenital stridor due to laryngomalacia, telecanthus, low nasal bridge, preauricular tag, and high arched palate. He spoke no meaningful words.
    Aberration: Ring chromosome
    Chromosomal Aneuploidy: 5p+;5q+

  • Park J P, Barefoot K H, Ornvold K, Berg S Z, Dossu J R, Mohandas T K.: Prenatal diagnosis of mosaic tetrasomy 5p. Prenat. Diag. 21:351-353, 2001. [PubMed: 11360274]
    Amniotic fluid=47,XY,+i(5p)[12]/46,XY[28].,Fetal skin=47,XY,+i(5p)[4]/46,XY[36].
    The pregnancy was terminated.
    The isochromosome was not observed in 40 cells each from kidney and pancreas.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 5p+
    Index Terms: 5p mosaic tetrasomy

  • Paulick J, Tennstedt C, Schwabe M, Korner H, Bommer C, Chaoui R.: Prenatal diagnosis of an isochromosome 5p in a fetus with increased nuchal translucency thickness and pulmonary atresia with hypoplastic right heart at 14 weeks. Prenat. Diag. 24:371-374, 2004. [PubMed: 15164412]
    CVS, short term culture=47,XX,+i(5p)[7]/46,XX[5].,CVS, long-term culture=47,XX,+i(5p)[20].,Fetus=47,XX,+i(5p)/46,XX.
    Sonographic examination at 12 and 14 weeks revealed pulmonary atresia with intact ventricular septum. Pregnancy terminated.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 5p+
    Index Terms: Hypoplastic right heart

  • Prades C, Laurent A M, Yurov Y, Puenchberty J, Roizes G.: A 19-allele polymorphic marker within the centromere of human chromosome 5. Cytogenet. Cell Genet. 72: 69-71, 1996. [PubMed: 8565639]
    The marker consists of a sequence of five nucleotides, (CCTTT)n. Nineteen alleles were detected in 46 people from 12 CEPH families.
    Aberration: Marker chromosome
    No band

  • Schmutz J, Martin J, Terry A, Couronne O, Grimwood J, Lowry S, Gordon L A, Scott D, Xie G, Huang W, Hellsten U, Tran-Gyamf M, She X, Prabhakar S, Aertis A, Altherr M, Bajorek E, Black S, Branscomb E, Caoile C, Challacombe J F, Chan Y M, Denys M, Detter J C, Escobar J, Flowers D, Fotopulos D, Glavina T, Gomez M, Gonzales E, Goodstein D, Grogoriev I, Broza M, Hammon N, Hawkins T, Haydu L, Israni S, Jett J, Kadner K, Kimball H, Kobayashi A, Lopez F, Lou Y, Martinez D, Medina C, Morgan J, Nandkeshwar R, Noonan J P, Pitluck S, Pollard M, Predki P, Priest J, Ramirez L, Retterer J, Rodriguez A, Rogers S, Salamov A, Salazar A, Thayer N, Tice H, Tsai M, Ustaszewska A, Vo N, Wheeler J, Wu K, Yang J, Dickson M, Cheng J-F, Eichler E E, Olsen A, Pennacchio L A, Rokhsar D S, Richardson P, Lucas S M, Myers R M, Rubin E M. : The DNA sequence and comparative analysis of human chromosome 5. Nature 431:268-274, 2004. [PubMed: 15372022]
    Index Terms: DNA sequence of chromosome 5

  • Sheppard J R, Wehner J M, McSwigan J D, Shows T B: Chromosomal assignment of the gene for the human beta 2-adrenergic receptor. PNAS 80:233-236, 1983. [PMC free article: PMC393346] [PubMed: 6296869]
    MIM#: 109690
    No band

  • Stamberg J, Thomas G H: Unusual supernumerary chromosomes: types encountered in a refereed population, and high incidence of associated maternal chromosome abnormalities. Hum. Genet. 72:140-144, 1986. [PubMed: 3455921]
    Case 3:
    Mother: 46,XX,t(5;9)(5p9p;5q9q).&Patient: 47,+der(9)(5p9p)mat.
    Aberration: Whole-arm translocations
    No band

  • Stanley W S, Powell C M, Devine G C, Ellingham T, Samango-Sprouse C A, Vaught D R, Murphy B A, Rosenbaum K N: Mosaic 5p tetrasomy. AJMG 45:774-776, 1993. [PubMed: 8456861]
    mos46,XX(11 cells)/ 46,XX,12q-(1 cell)/ 47,XX,+i(5p)(18 cells)-skin.&46,XX-blood.
    Patient had dysmorphic features including "coarse" facial appearance, hypotonia, developmental delay and hyperpigmentation of the skin.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 5p+
    No band