06q253

6q25.3

Publication Details

  • Krassikoff N, Sekhon G S: Terminal deletion of 6q and Fryns syndrome: a microdeletion/syndrome pair? AJMG 36:363-364, 1990. [PubMed: 2363440]
    Krassikoff N E, Lubinsky M S: Response to Drs. Zori and Willimas: phenocopy versus genocopy. AJMG 40:249, 1991.
    Zori R T, Williams C A: Phenocopy versus genocopy. AJMG 40:248, 1991. [PubMed: 1897581]
    46,XX,del(6)(q25.3 -> qter).
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 6q-
    Index Terms: Phenocopy,Genocopy
    Negative band

  • Meng J, Fujita H, Nagahara N, Kashiwai A, Yoshioka Y, Funato M: Two patients with chromosome 6q terminal deletions with breakpoints at q24.3 and q25.3. AJMG 43:747-750, 1992. [PubMed: 1621768]
    Patient 2.
    46,XX,del(6)(q25.3)de novo.
    Patient was 2 years old with MCA/MR including craniofacial and cerebral anomalies, and cardiac defects, retinitis proliferans and a triatrial heart.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 6q-
    Negative band

  • Muller S, Rocchi M, Ferguson-Smith M A, Wienberg J.: Toward a multicolor chromosome bar code for the entire human karyotype by fluorescence in situ hybridization. Hum. Genet. 100:271-278, 1997. [PubMed: 9254863]
    Case PB:
    46,XX,t(6;13)(q25.3;q22)
    Aberration: Reciprocal translocation
    No band

  • Striano P, Malacarne M, Cavani S, Pierluigi M, Rinaldi R, Cavaliere M L, Rinaldi M M, De Bernardo C, Coppola A, Pintaudi M, Gaggero R, Grammatico P, Striano S, Dallapiccola B, Zara F, Faravelli F.: Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: five new cases. AJMG Part A: 140A: 1944-1949, 2006. [PubMed: 16906558]
    Patient 1=der(6)t(1;6)mat, del(6)distal to RP1-L168L15 Pac clone(q27->qter), 4Mb.,Patients 2 and 4=del(6)(q26->qter)dn,RP1-107N2, 8 Mb.,Patient 3=del(6)distal to RP1-366N23(q27->qter)dn, 3 Mb.,Patient 5=del(6)(q25.3->qter), distal to RP1-395C13 PAC clone, 13 Mb.
    All five patients had mild to moderate MR, hypotonia, typical facial anomalies and except one focal epilepsy.
    Aberration: TD,RT
    Chromosomal Aneuploidy: 6q-

  • Vissers L E L M, de Vries B B A, Osoegawa K, Janssen I M, Feuth T, Choy C O, Straatman H, van der Vliet W, Huys E H L P G, van Rijk A, Smeets D, van Ravenswaaij-Arts C M A, Knoers N V, van der Burgt I, de Jong P J, Brunner H G, van Kessel A G, Schoenmakers E F P M, Veltman J A.: Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities. AJHG 73:1261-1270;DOI=0002-9297/2003/7306-0006, 2003. [PMC free article: PMC1180392] [PubMed: 14628292]
    Patient 5:
    46,XY,del(6)(q25.3q26), <1 Mb, 1 clone.
    The 19 year old had facial dysmorphism, polydactyly, polycystic kidney (familial), and mild MR.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 6q-
    Index Terms: CGH array based

  • Voullaire L E, Webb G C, Leversha M: Fragile X testing in a diagnostic cytogenetics laboratory. J. Med. Genet. 26:439-442, 1989. [PMC free article: PMC1015647] [PubMed: 2473208]
    46,XY,t(6;7)(q25.3;q11.21).
    Aberration: Simple translocation
    Negative band