05q210

5q21

Publication Details

  • Boue A, Gallano P: A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses. Prenat. Diag. 4:45-67, 1984. [PubMed: 6463033]
    t(5;10)(q21;p14); t(5;12)(q21;p13).
    Aberration: Reciprocal translocation
    Positive band

  • Canki N, Dutrillaux B: Two cases of familial paracentric inversion in man associated with sex chromosome anomaly. 47,XXY,inv(5)(q21q32) and 45,X,inv(7)(q11.3q22.3). Hum. Genet. 47:261-268, 1979. [PubMed: 457116]
    Case 1 (No. 2317) a 36-year-old man was karyotyped because of primary sterility. Mother has the same inversion.
    47,XXY,der inv(5)(pter -> q21::q32 -> q21::q32 -> qter)mat.
    Aberration: Inversion paracentric
    Index Terms: Sterility ... male
    Positive band

  • Cifuentes P, Navarro J, Blanco J, Vidal F, M+¡guez L, Egozcue J, Benet J.: Cytogenetic analysis of sperm chromosomes and sperm nuclei in a male heterozygous for a reciprocal translocation t(5;7)(q21;q32) by in situ hybridisation. Europ. J. Hum. Genet. 7:231-238, 1999. [PubMed: 10196708]
    46,XY,t(5;7)(q21;q32).
    Case ascertained at amniocentesis. The frequencies were alternate=49.7%, adjacent-1=32.4%, adjacent-2=16.2%, and 3:1=1.7%. There was no evidence of interchromosomal effect.
    Aberration: Reciprocal translocation
    Index Terms: Sperm chromosomes

  • Haider S, Matsumoto R, Kurosawa N, Wakui K, Fukushima Y, Isobe M.: Molecular characterization of a novel translocation t(5;14)(q21;q32) in a patient with congenital abnormalities. J. Hum. Genet. DOI=10.1007/s10038-006-0365-x; 51:335-340, 2006. [PubMed: 16498521]
    46,XX,t(5;14)(q21;q32)
    A 27 year old patient with athetotic tetraplegia, microcephaly, peculiar facies (upward slanting of palpebral fissures), clinodactyly of the fifth fingers, overlapping toes, and severe MR.
    Aberration: Reciprocal translocation

  • Herrera L, Kakati S, Gibas L, Pietrzak E, Sandberg A A: Gardner syndrome in a man with an interstitial deletion of 5q. AJMG 25:473-476, 1986. [PubMed: 3789010]
    46,XY,del(5)(q15q22).
    This finding was useful in the subsequent mapping and cloning of the APC gene.
    Aberration: Interstitial deletion
    MIM#: 175100
    Chromosomal Aneuploidy: 5q-
    Index Terms: Gardner syndrome
    Negative band

  • Hoban P R, Cowen R L, Mitchell E L D, Evans D G, Kelly M, Howard P J, Heighway J.: Physical localisation of the breakpoints of a constitutional translocation t(5;6)(q21;q21) in a child with bilateral Wilms'' tumour. J. Med. Genet. 34:343-345, 1997. [PMC free article: PMC1050926] [PubMed: 9138163]
    46,XY,t(5;6)(q21;q21)de novo
    The infant was 6 months old.
    Aberration: Reciprocal translocation
    MIM#: 194080
    Index Terms: Wilms' tumor
    No band

  • Kinzler K W, Nilbert M C, Su L K, Vogelstein B, Bryan T M, Levy D B, Smith K J, Preisinger A C, Hedge P, McKechnie D, Finniear R, Markham A, Groffen J, Boguski M S, Altshul S F, Horii A, Ando H, Miyoshi Y, Miki Y, Nishisho I, Nakamura Y: Identification of FAP locus genes from chromosome 5q21. Science 253:661-665, 1991. [PubMed: 1651562]
    Kinzler K W, Nilbert M C, Vogelstein B, Bryan T M, Levy D B, Smith K J, Preisinger A C, Hamilton S R, Hedge P, Markham A, Carlson M, Joslyn G, Groden J, White R, Miki Y, Miyoshi Y, Nishisho I, Nakamura Y: Identification of a gene located at chromosome 5q21 that is mutated in colorectal cancers. Science 251:1366-1370, 1991. [PubMed: 1848370]
    Nishisho I, Nakamura Y, Miyoshi Y, Miki Y, Ando H, Horii A, Koyama K, Utsunomiya J, Baba S, Hedge P, Markham A, Krush A J, Petersen G, Hamilton S R, Nilbert M C, Levy D B, Bryan T M, Preisinger A C, Smith K J, Su L K, Kinzler K W, Vogelstein B: Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. Science 253:665-669, 1991. [PubMed: 1651563]
    5.71 cosmid detected a somatically rearranged restriction fragment in the DNA from a tumor.,Six contiguous streches of sequence (contigs) containing approximately 5.5 Mb of DNA were isolated. Two genes (APC and MCC) are likely to contribute to colorectal tumorigenesis.
    MIM#: 175100
    Index Terms: Cancer ... colorectal
    Positive band

  • Sirko-Osadsa D A, Cassidy S B, Depinet T W, Robin N H, Limwongse C, Schwartz S.: Molecular refinement of karyotype: beyond the cytogenetic band. Genet. in Med. 1:254-261, 1999. [PubMed: 11258626]
    Patient 1:
    46,XY,del(5)(q21q23)de novo. The breakpoints are between markers D5S433 and D5S492 in the band q21; and D5S2098 and D5S2110 in the band q23; the size of deletion is approximately 8 Mb.
    The patient was 3 yo with a history of ASD, pulmonary stenosis, mild to moderate growth retardation, and global developmental delay.
    Aberration: Interstitial deletion
    MIM#: 175100
    Chromosomal Aneuploidy: 5q-

  • Tanemura M, Suzumori K, Nishikawa N, Ishihara Y.: Multicolor spectral karyotyping for complex chromosomal rearrangements in repeated abortion or congenital anomalies. Prenat. Diag. 21:1123-1128, 2001. [PubMed: 11787036]
    Family 4 was ascertained because of trisomy 13 pregnancy and parental desire to have some studies done!
    46,XY,t(5;8)(q21;q21.2).
    Aberration: Reciprocal translocation
    Index Terms: SKY