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Borgaonkar DS. Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1975-.

Cover of Chromosomal Variation in Man

Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].

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  • Same entry as in 01q410 (Emberger et al, 2001).

  • Avansino J R, Dennis T R, Spallone P, Stock A D, Levin M L. : Proximal 5p trisomy resulting from a marker chromosome implicates band 5p13 in 5p trisomy syndrome. AJMG 87:6-11, 1999. [PubMed: 10528239]
    Froster U G, Reichenbach H.: Trisomy of 5p and marker chromosomes. AJMG 93:76, 2000. [PubMed: 10861686]
    47,XX,+mar.rev ish(5)(p10p13.1)de novo
    The propositus was a product of IVF triplet gestation. The patient at 5 1/2 months had MCA including macrocephaly, metopic depression and midface hypoplasia.
    Chromosomal Aneuploidy: 5p+
  • Gillis L A, McCallum J, Kaur M, DeScipio C, Yaeger D, Mariani A, Kline A D, Li H-h, Devoto M, Jackson L G, Krantz I D.: NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. AJHG 75:610-623, 2004. [PMC free article: PMC1182048] [PubMed: 15318302]
    Krantz I D, McCallum J, DeScipio C, Kaur M, Gillis L A, Yaeger D, Jukofsky L, Wasserman N, Bottani A, Morris C A, Nowaczyk M J M, Toriello H, Bamshad M J, Carey J C, Rappaport E, Kawauchi S, Lander A D, Calof A L, Li H-h, Devoto M, Jackson L G.: Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nature Genet. DOI=10.1038/ng1364; 36:631-635, 2004. [PubMed: 15146186]
    Mutations were found in 56 (47%) of 120 unrelated individuals with sporadic or familial CdLS. A trend toward milder phenotype in individulas with missense mutations than in those with other types of mutations was suggested.
    46,t(5;13)(p13.1;q12.1)de novo.,46,XY,del(5)(p13.1->p14.2)de novo; case reported earlier by Hulinsky et al 2003.
    Fine mapping was done in 12 families at an average density of 1-1.5 cM. A highest lod score of 2.7 for chromosome 5p13 was obtained. The critical region was refined to a region of 7.4 Mb spanning 5p13.1-13.3 flanked by markers D5S477 distally and D5S1376 proximally and containing 58 putative genes. The chromosome abnormalities in two unrelated patients gave corroborating evidence. Mutations were identified in one gene in this region, named NIPBL, in four sporadic and two familial cases of CdLS.
    Aberration: Simple translocation
    MIM#: 122470
    Index Terms: Cornelia de Lange syndrome, CdLS, NIPBL
  • Kleczkowska A, Fryns J P, Moerman Ph, Vandenberghe K, Van den Berghe H: Trisomy of the short arm of chromosome 5: autopsy data in a malformed newborn with inv dup(5)(p13.1 to p15.3). Clin. Genet. 32:49-56, 1987. [PubMed: 3621654]
    46,XY,inv dup(5)(5pter -> p15.3::p13.1 -> p15.3::p15.3 -> cen -> qter).
    Aberration: Inverted insertions within a chromosome
    Chromosomal Aneuploidy: 5p+
    Negative band
  • Mutchinick O M, Shaffer L G, Kashork C D, Cervantes E I.: Miller-Dieker syndrome and trisomy 5p in a child carrying a derivative chromosome with a microdeletion in 17p13.3 telomeric to the LIS1 and the D17S379 loci. AJMG 85:99-104, 1999. [PubMed: 10406660]
    Proband=46,XX,der(17)(5;17)(p13.1;p13.3)mat.,Individuals II-4, III-14, III-15, and IV-6=,46,XX or XY,t(5;17)(p13.1;p13.3).
    The proband was 8 years old with MR, postnatal growth deficiency, generalized muscular hypotonia, seizures, miecrocephaly, cortical atrophy, partial agenesis of corpus callosum, cerebral ventriculomegaly, facial anomalies, patent ductus arteriosus, pectus excavatum, long fingers, and bilateral talipes equinovarus.
    Aberration: Reciprocal translocation
    MIM#: 247200
    Chromosomal Aneuploidy: 5p+;17p-
  • Tuerlings J H A M, de France H F, Hamers A, Hordijk R, Van Hemel J O, Hansson K, Hoovers J M N, Madan K, Van Der Blij-Philipsen M, Gerssen-Schoorl K B J, Kremer J A M, Smeets D F C M.: Chromosome studies in 1792 males prior to intra-cytoplasmic sperm injection: the Dutch experience. Europ. J. Hum. Genet. 6:194-200, 1998. [PubMed: 9781022]
    Aberration: PI,TR
    Index Terms: ICSI
  • Van Hemel J O, Eussen H J.: Interchromosomal insertions. Identification of five cases and a review. Hum. Genet. 107:415-432, 2000. [PubMed: 11140939]
    Case 3:
    46,XY,dir ins(18;5)(q21.3;p13p14).ish ins(18;5)(wcp5+;wcp5+).
    The case was associated with spontaneous abortions.
    Aberration: Direct insertion between two chromosomes
    No band
  • Vera-carbonell A, Bafalliu J A, Guillen-Navarro E, Escalona A, Ballesta-Martinez M J, Fuster C, Fernandez A, Lopez-Exosito I.: Characterization of a de novo complex chromosomal reaarngement in a patient with cri-du-chat and trisomy 5p syndromes. AJMG Part A: 149A: 2513-2521, 2009. [PubMed: 19842199]
    46,XX,inv dup (5p13.1-p14.2), del(5p14.2), dup (5p12).
    The female patient died at 3 months of age as a result of cardiorespiratory failure.
    Aberration: CR
    Chromosomal Aneuploidy: 5p-;5p+
    Index Terms: Cri-du-Chat syndrome (Cat's cry syndrome),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
  • 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]
    Aberration: Inversion pericentric
    Negative band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105831
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