20p110

20p11

Publication Details

  • Arrieta I, Nunez T, Gil A, Flores P, Usobiaga E, Martinez B. : Autosomal folate sensitive fragile sites in an autistic Basque sample. Ann. Genet. 39:69-74, 1996. [PubMed: 8766136]
    30 autistic children and 30 controls were examined.
    The cFS found were at 1p21, 1p36, 1q44, 2p16, 2q37, 3p24, 4q27, 6p22, 6p25, 7q31, 7q32, 10q25, 11p13, 13q21, 14q23, 15q22 and 16q22. The rFS found were at 2q13, 6p23, 10q23, 12q13 and 20p11.
    Aberration: Fragile sites
    Index Terms: Basque,Autis(m)(tic)
    No band

  • Same entry as in 01p350,03q220 (Boue and Gallano, 1984).

  • 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]
    inv(20)(p11q12).
    Aberration: Inversion pericentric
    No band

  • Grammatico P, Cupilari F, Di Rosa C, Falcolini M, Del Porto G: 20p duplication as a result of parental translocation: familial case report and a contribution to the clinical delineation of the syndrome. Clin. Genet. 41:285-289, 1992. [PubMed: 1623622]
    Patients 1 (II-9) P.G. and 2 (III-9) B.M.
    46,XY and XX,-21,+der(21)t(20;21)(p11;q22)mat.
    The characteristics include normal growth pattern, mental and psychomotor retardation, reduced motor coordination, poor language development, round face and prominent cheeks, vertebral and dental anomalies, and renal malformations.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 20p+
    No band

  • Groupe de Cytogeneticiens Francais: Pericentric inversions of chromosome 20. Ann. Genet. 29:156, 1986.
    Family PA7.
    46,XX and XY,inv(20)(p11q12).
    Family ascertained because of recurrent miscarriages.
    Aberration: Inversion pericentric
    No band

  • Kalousek D K, Therien S: Deletion of the short arms of chromosome 20. Hum. Genet. 34:89-92, 1976. [PubMed: 965012]
    46,XX,del(20)(p11).&46,XX,del(20)(20qter -> 20p11:).
    Parental karyotypes were normal. No evidence of translocation of the missing material was detected. The causal relationship of the abnormalities in the proposita to the deleted chromosome 20 is uncertain. The 11-month-old patient had a dysmorphic syndrome, multiple congenital anomalies, psychomotor and growth retardation.
    Aberration: Terminal deletion
    No band

  • Kiss P, Osztovics M K: Deletion of the short arm of chromosome 20. Clin. Genet. 33:140-141, 1988. [PubMed: 3359664]
    Patient was 6 months old.
    46,XX,del(20)(p11).
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 20p-
    No band

  • Kogame K, Fukuhara T, Maeda A, Kudo Y: A partial short arm deletion of chromosome 20: 46,XY,del(20)(p11). Jpn. J. Hum. Genet. 23:153-160, 1978. [PubMed: 691837]
    A 5-year-old boy with normal ADA activity. Karyotypes of parents were normal.
    46,XY,del(20)(qter -> p11:).
    Aberration: Terminal deletion
    No band

  • Silengo M C, Bell G L, Biagoli M, Franceschini P: Partial deletion of the short arm of chromosome 20: 46,XX,del(20)(p11)/46,XX mosaicism. Clin. Genet. 33:108-110, 1988. [PubMed: 3359663]
    Patient M.N. was 10 months old.
    Blood-mos46,XX/46,XX,del(20)(p11).
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 20p
    No band

  • Subrt I, Brychnac V: Trisomy for the short arm of chromosome 20. Humangenetik 23:219-222, 1974. [PubMed: 4210799]
    46,XX,t(20;21)(p11;p11).,46,XX,t(20;21)(20pter->20p11::21p11->21qter;,21pter->21p11::20p11->20qter).,46,XX,-21,+der(21)t(20;21)(p11;p11)mat.
    Aberration: Reciprocal translocation
    No band

  • Vianna-Morgante A M, Richieri-Costa A, Rosenberg C: Deletion of the short arm of chromosome 20. Clin. Genet. 31:406-409, 1987. [PubMed: 3621644]
    Patient RBC was 1 year old.
    46,XY,del(20)(p11p13). Band p12 is missing.
    Chromosomal Aneuploidy: 20p-
    No band