13q210

13q21

Publication Details

  • Baena N, De Vigan C, Cariati E, Clementi M, Stoll C, Caballin M R, Guitart M, The EUROSCAN Working Group.: Prenatal detection of rare chromosomal autosomal abnormalities in Europe. AJMG DOI=10.1002/ajmg.a.10104; 118A:319-327, 2003. [PubMed: 12687662]
    dup(13)(q21q32).
    Mother was 35 years, Minor anomalies (missed by ultrasound) were noted at live birth after 36 weeks.
    Aberration: Duplication
    Chromosomal Aneuploidy: 13q+

  • 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(13;22)(q21;q11).
    Aberration: Reciprocal translocation
    Positive band

  • Chen C P, Liu F F, Jan S W, Wang K G, Lan C C.: Prenatal diagnosis of partial monosomy 13q associated with occipital encephalocoele in a fetus. Prenat. Diag. 16:664-666, 1996. [PubMed: 8843478]
    46,XX,del(13)(pter->q21:)de novo.
    At 19 weeks of gestation a sonographic examination revealed sevre IUGR, heart abnormalities, microcephaly, a large encephalocoele. The pregnancy was terminated and post-mortem showed microphthalmia, hypertelorism, large low-set ears, and micrognathia.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 13q-
    Index Terms: Occiput ... encephalocoele
    Positive band

  • Couturier J, Morichon-Delvallez N, Dutrillaux B: Deletion of band 13q210 is compatible with normal phenotype. Hum. Genet. 70:87-91, 1985. [PubMed: 3997156]
    Proband was 25 years old, and his mother, both had the deletion.
    46,XX and XY,del(13)(q21).
    Aberration: Interstitial deletion
    Positive band

  • Cuschieri A, Agius P V, Scheres J M J C: Partial deletion of the long arm of chromosome No. 13. Hum. Genet. 36:341-344, 1977. [PubMed: 852876]
    46,XX,del(13)(q21).&46,XX,del(13)(pter -> q21:).
    Parents karyotypes were normal. Patient died 12 hours after birth and had severe microcephaly, micropthalmos, talipes calcaneovalgus, single crease on 5th fingers, and normal thumbs.
    Aberration: Terminal deletion
    Index Terms: Eye ... microphthalmia,Fingers ... fifth single crease,Microcephaly,Microphthalmia
    Positive band

  • de Grouchy J, Turleau C, Danis F, Kohout G, Briard M L: Trisomie 13qter par duplication en tandem. 46,XX, dir dup 13(q21 to qter), 9qh+. Ann. Genet. 21:247-251, 1978. [PubMed: 314266]
    46,XX,dup(13)(pter -> q34::q21 -> qter).&46,XX,dup 13(q21 -> qter).&The patient had following features: normal birth weight, early feeding difficulties, mild psychomotor retardation, low-set hairline on the forehead, thick eyebrows, long upturned eyelashes, pointed nose, micrognathia, large, flat, posteriorly rotated ears, multiple hemangiomata, normal hematological status. The hypothesis of an unequal crossing over is discussed, as well as the possibility of constructing a phenotypic map of chromosome 13.
    Aberration: Duplication
    Index Terms: Ears ... large, flat, posteriorly rotated,Eyebrow ... thick,Eye-lashes ... curved,Hairline ... anterior, low,Hemangioma,Micrognathia
    Positive band

  • English C J, Davison E V, Bhate M S, Barrett L: Chromosome studies of males in an institution for the mentally handicapped. J. Med. Genet. 26:379-381, 1989. [PMC free article: PMC1015622] [PubMed: 2525623]
    46,XY,del(13)(q21q31).
    Aberration: Interstitial deletion
    Positive band

  • Handig I, Van Camp G, Van Tienen M N, Van Roy B, Read A, Willems P J: A second Waardenburg syndrome gene on chromosome 13q? AJHG 53:Abst. 1011, 1993.
    46,XY,del(13)(q21q32)de novo.
    Aberration: Interstitial deletion
    MIM#: 193510
    Chromosomal Aneuploidy: 13q-
    Index Terms: Waardenburg syndrome ... type II
    Positive band

  • Li S, Malafiej P, Levy B, Mahmood R, Field M, Hughes T, Lockhart L H, Wu Z, Huang M, Hirschhorn K, Velagaleti G V N, Daniel A, Warburton P E.: Chromosome 13q neocentromeres: molecular cytogenetic characterization of three additional cases and clinical spectrum. AJMG DOI=10.1002/ajmg.10454;110:258-267, 2002. [PubMed: 12116235]
    Warburton P E, Dolled M, Mahmood R, Alonso A, Li S, Naritomi K, Tohma T, Nagai T, Hasegawa T, Ohashi H, Govaerts L C P, Eussen B H J, Van Hemel J O, Lozzio C, Schwartz S, Dowhanick-Morrissette J J, Spinner N B, Rivera H, Crolla J A, Yu C-y, Warburton D.: Molecular cytogenetic analysis of eight inversion duplications of human chromosome 13q that each contain a neocentromere. AJHG 66:1794-1806;DOI:001639, April 24, 2000. [PMC free article: PMC1378043] [PubMed: 10777715]
    Eight independent patient derived cell lines were studied.
    Five independent neocentromeres in band 13q32, two in band 13q32, and one in band 13q31 have formed.
    Three cases (patients B.C., J.M., and M.G.) have been added by Li and coworkers. They conclude that the complexity and variability of the phenotypes does not support a simple reductionist view of phenotype/genotype correlation with polysomy for certain chromosomal regions.
    Aberration: IP,DU
    Chromosomal Aneuploidy: 13q+
    Index Terms: Neocentromere

  • McCormack W M, Jr, Shen J J, Curry S M, Berend S A, Kashork C, Pinar H, Potocki L, Bejjani B A.: Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy-Walker malformation. AJMG DOI=10.1002/ajmg.10659; 112:384-389, 2002. [PubMed: 12376941]
    In a Corrigendum (AJMG 118A: pages 200 onwards, published in 2003) the entire paper is republished with color pictures since the original paper contained black and white figures.
    Patient 1:46,XY,der(13)t(1;13)(q43;q21)pat.,Patient 2:46,XX,del(13)(q22q33)
    Patient 1 died at 22 hours of life. Patient 2 was 2 days old.
    Aberration: ID,RT
    Chromosomal Aneuploidy: 1q+;13q-
    Index Terms: Dandy Walker Malformation,Holoprosencephaly

  • Nielsen J, Homma A, Christiansen F, Rasmussen K, Saldana-Garcia P: Deletion long arm 13. Hum. Genet. 37:339-346, 1977. [PubMed: 885554]
    46,XX,del(13)(pter -> q21::q31 -> qter).
    65 year old mentally retarded woman (who can take care of many of her needs) is described. Other cases are reviewed.
    Aberration: Interstitial deletion
    Positive band

  • Pai G S, Thomas G H, Leonard C O, Ward J C, Valle D L, Pyeritz R E: Syndromes due to chromosomal abnormalities: Partial trisomy 22, interstitial deletion of the long arm of 13, and trisomy 8. Johns Hopk. Med. J. 145:162-169, 1979. [PubMed: 491337]
    Patient was 24 months old.
    46,XY,del(13)(q21 and q22 or maybe even 31).&46,XY,del(13)(pter -> q21::q22 or q31 -> qter).
    Aberration: Interstitial deletion
    Positive band

  • Pangalos C, Couturier J: "Partial trisomy 13(q21.3 to qter) resulting from a maternal translocation t(13;21)." Ann. Genet. 24:179-181, 1981. [PubMed: 6974532]
    Patient was 3 1/2 years old with mild dysmorphic features and psychomotor retardation.
    46,XY,t(13;21)(q21.2;q11).&"46,XX and XY,der(13)der(21)t(13;21)(q21.3;q11)pat."&"47,XX,+der(21)t(13;21)(21pter -> 21q11::13q21.2 -> 13qter)."
    Aberration: Simple translocation
    Positive band

  • Prieto F, Badia L: Adjacent 2 translocation involving 13q and 21q. J. Med. Genet. 20:155, 1983. [PMC free article: PMC1049029] [PubMed: 6842558]
    Prieto F, Badia L, Asensi F, Roques V: "Two reciprocal translocations t(9p+;13q-) and t(13q-;21q+). A study of the families." Hum. Genet. 54:7-11, 1980. [PubMed: 7390483]
    46,XY,-21,+der(13)t(13;21)(q21;q21)mat.
    A 1 year old boy with Down syndrome.
    47,XY,+21,der(13)der(21)t(13;21)(q21;q21)mat.
    A 3 year old boy with multiple congenital anomalies.
    46,XY,-21,+der(13)t(13;21)(13pter -> cen -> 13q21::21q21 -> 21qter)mat.
    Case 2 C. F. F. 28 years old.
    46,XX,t(13;21)(q21;q21).
    Aberration: Reciprocal translocation
    Index Terms: Down syndrome (Trisomy 21)
    Positive band

  • Sachs E S, Jahoda M G J, van Hemel J O, Hoogeboom A J M, Sandkuyl L A: Chromosome studies of 500 couples with two or more abortions. Obst. Gynecol. 65:375-378, 1985. [PubMed: 3974963]
    46,XX,t(13;22)(q21;q11).
    Aberration: Reciprocal translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Positive band

  • Serenga-Lungarotti M, Calabro A, Mariotti G, Mastroiacovo P P, Provenzano S, Dallapiccola B: Interstitial deletion 13q syndromes: A report on two unrelated patients. Hum. Genet. 52:269-274, 1979. [PubMed: 535887]
    Case 1, two years old.
    46,XX,del(13)(q21 -> q31).&46,XX,del(13)(pter -> q21::q31 -> qter).
    Case 2, 18 years old.
    46,XX,del(13)(q12 -> q21).&46,XX,del(13)(pter -> q12::q21 -> qter).&Both patients with mental retardation and mild dysmorphic features but retinoblastoma was not present. Parental karyotypes were normal.
    Aberration: Interstitial deletion
    Positive band

  • Sheridan E, Williams J, Caine A, Morgan R, Mason G, Mueller R F.: Counselling implications of chromosomal abnormalities other than trisomy 21 detected through a maternal serum screening programme. Brit. J. Obstet. Gynecol. 104:42-45, 1997. [PubMed: 8988695]
    inv(13)(q21q22)de novo
    Aberration: Inversion paracentric
    Index Terms: Maternal serum screening
    No band