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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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03p110

3p11
  • 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]
    del(3)(p11p14).
    Detected by ultrasound examination at 36 weeks, maternal age of 35 years, with IUGR and neonatal death and MCA.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 3p-
  • Blanco B, Loeza F, Carnevale A: "Balanced reciprocal whole arm translocation t(3;9): analysis by fluorescence in situ hybridisation." J. Med. Genet. 31:74-75, 1994. [PMC free article: PMC1049606] [PubMed: 8151645]
    45,X,t(3;9)(3qter->3p11::9q11->9qter;,9pter->9q11::3p11->3pter)de novo.
    The 19 year old patient was referred because of short stature and absence of secondary sexual characteristics.
    Aberration: Whole-arm translocations
    Index Terms: FISH
    Variable band
  • 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(3)(p11p21).
    Aberration: Inversion paracentric
    Variable band
  • Chandley A C, Edmond P, Christie S, Gowans L, Fletcher J M, Frackiewicz A, Newton M S: Cytogenetics and infertility in man. I. Karyotype and seminal analysis. Results of a five-year survey of men attending a subfertility clinic. Ann. Hum. Genet. 39:231-254, 1975. [PubMed: 1052767]
    46,XY,t(3;19)(p11;p13).,46,XY,t(3qter->3p11::19p13->19pter;19qter->19p13::3p11->3pter).,46,XX and XY,der(3)der(19)t(3;19)(p11;p13)mat and pat.,Same case reported by Jacobs et al, 1974.
    Aberration: Reciprocal translocation
    Index Terms: Sterility ... male
    Variable band
  • Verma R S, Dosik H: Human chromosomal heteromorphisms in American blacks. I. Structural variability of chromosome 3. J. Hered. 71:441-442, 1980. [PubMed: 7217659]
    Verma R S, Dosik H: Human chromosomal heteromorphisms in American blacks. IV. Intensity variation in centromeric regions of chromosomes 3 and 4. Canad. J. Genet. Cytol. 23:315-320, 1981. [PubMed: 7296354]
    48,XXYY,der inv(3)(p11q11.2)mat.
    Aberration: MA,PI
    Variable band
  • Cox D M, Hoar D I, In, Daniel A, Hook E B, Wulf G: Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. AJMG 33:14-53, 1989. [PubMed: 2750783]
    Observation No. 342.
    46,XY,t(3;8)(p11;q13)mat.
    Aberration: Reciprocal translocation
    Variable band
  • Crispino B, Cardoso H, Mimbacas A, Mendez V.: Deletion of chromosome 3 and a 3;20 reciprocal translocation demonstrated by chromosome painting. AJMG 55:27-29, 1995. [PubMed: 7702091]
    Patient J.B.
    46,XY,t(3;20)(p14.2;p12.2)del(3)(p11p14.1).
    The patient had seveal minor anomalies anomalies of the face and hands consistent with other patients with interstitial deletions of 3p.
    Aberration: ID,RT
    Chromosomal Aneuploidy: 3p-
    Variable band
  • Hertz J M, Coerdt W, Hahnemann N, Schwartz M: Interstitial deletion of the short arm of chromosome 3. Fetal pathology and exclusion of the gene for beta-galactosidase-1 (GLB-1) from 3(p11 to p14.2). Hum. Genet. 79:389-391, 1988. [PubMed: 3137147]
    46,XY,del(3)(pter -> p14.2::p11 -> pter).
    The fetus had craniofacial dysmorphisms, a single transverse palmer crease, ulnar deviation in the wrists, cardiovascular anomalies, a slight ureteric dilatation and a mobile caecum.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 3p-
    Variable band
  • Jacobs P A, Buckton K E, Cunningham C, Newton M S: An analysis of the break points of structural rearrangements in man. J. Med. Genet. 11:50-64, 1974. [PMC free article: PMC1013088] [PubMed: 4134839]
    M. R. C. Registry No. K87-200-70 in this report.
    46,XY,t(3;19)(p11;p13).&Same case reported by Chandley et al, 1975.
    Aberration: Reciprocal translocation
    Variable band
  • Kajii T, Ohama K: Androgenetic origin of hydatidiform mole. Nature 268:633-634, 1977. [PubMed: 561314]
    46,XX,t(3;22)(p11;p11).,46,XX,t(3;22)(3qter->3p11::22p11->22pter;,22qter->22p11::3p11->3pter).
    Aberration: Reciprocal translocation
    Index Terms: Hydatidiform mole
    Variable band
  • Kousseff B G, Papenhausen P, Essig Y P, Torres M P: Complex chromosome rearrangement with ankyloblepharon filiforme adnatum. J. Med. Genet. 30:167-170, 1993. [PMC free article: PMC1016279] [PubMed: 8445625]
    46,XY,der inv(3)(p11q11)del(3)(q11q21)t(3;11),(3pter->3p11::3q11->3p11::11q11->11qter),der(11)t(3;11)(11pter->11q11::3q21->3qter),,der(15)der(22)t(15;21)(q22;q22)de novo.
    A Caucasian boy with dysmorphic features and ankyloblepharon filiforme adnatum.
    Aberration: Complex translocation
    MIM#: 106250
    Chromosomal Aneuploidy: 3q-
    Index Terms: Ankyloblepharon filiform adnatum
    Variable band
  • Lamont M A, Dennis N R, Seabright M: Chromosome abnormalities in pupils attending ESN/M schools. Arch. Dis. Childhood 61:223-226, 1986. [PMC free article: PMC1777694] [PubMed: 2421647]
    Case No. 9 in this report.
    46,XY,t(3;15)(p11;q21.2).
    Aberration: Simple translocation
    Variable band
  • Lin C C, Gedeon M M, Griffith P, Smink W K, Newton D R, Wilkie L, Sewell L M: Chromosome analysis on 930 consecutive newborn children using quinacrine fluorescent banding technique. Hum. Genet. 31:315-328, 1975. [PubMed: 60278]
    Reallocation of the bright fluorescent band onto this region from q11 was found in seven infants in this study (0.75%).
    Aberration: Marker chromosome
    Variable band
  • Madan K, Seabright M, Lindenbaum R H, Bobrow M: Paracentric inversions in man. J. Med. Genet. 21:407-412, 1984. [PMC free article: PMC1049338] [PubMed: 6392555]
    Case 2.
    46,XY,inv(3)(p11p21)mat; and maternal grandfather was a carrier also.
    Aberration: Inversion paracentric
    Variable band
  • Makino T, Tabuchi T, Nakada K, Iwasaki K I, Tamura S, Iizuka R: Chromosomal analysis in Japanese couples with repeated spontaneous abortions. Int. J. Fertil. 35:266-270, 1990. [PubMed: 1980661]
    46,XY,t(3;13)(p11;q22).
    Aberration: Reciprocal translocation
    Variable band
  • Mikelsaar A V N, Ilus T A, Kivi S: Variant chromosome 3 (inv 3) in normal newborns and their parents, and in children with mental retardation. Hum. Genet. 41:109-113, 1978. [PubMed: 631855]
    Differences in frequencies of this variant chromosome, 6% and 11.1%, was not significant.
    Aberration: Marker chromosome
    Variable band
  • Petek E, Windpassinger C, Simma B, Mueller T, Wagner K, Kroisel P M.: Molecular characterisation of a 15Mb constitutional de novo interstitial deletion of chromosome 3p in a boy with developmental delay and congenital anomalies. J. Hum. Genet. DOI=10.1007/s10038-003-0023-5;48:283-287, 2003. [PubMed: 12836054]
    46,XY,del(3)(p11p13)de novo
    A 22-month-old Bosnian boy with developmental and psychomotor retardation as well as craniofacial dysmorphism, including cleft-lip is described.
    The deleted segment encompasses about 15 Mb between marker D3S3551 and the centromere, and the genes are PROK2, GPR27, RYBP, PPP4R2, ROBO1, and GBE1.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 3p-
  • Soudek D, Sroka H: Inversion of Fluorescent segment in chromosome 3: A polymorphic trait. Hum. Genet. 44:109-115, 1978. [PubMed: 730157]
    inv(3)(p11q12).,The frequency of the "inversion" of fluorescent constitutive heterochromatin in chromosome 3 was the same in a sample of 370 retarded persons as in a sample of 222 mentally normal men. It is concluded that this inversion is not associated with mental retardation. This variant is more common (4%) in the Canadian population the authors studied than in samples reported by most other authors (0-1.7%). They suggest that the founder effect could play a role in the differences.
    Aberration: Marker chromosome
    Variable band
  • Spedicato F S, Dicomite A, Gaudio R: Pericentric inversion inv(3)(p11q21). J. Med. Genet. 21:396, 1984. [PMC free article: PMC1049329] [PubMed: 6502656]
    46,XX and XY,inv(3)(p11q21).
    Aberration: Inversion pericentric
    Variable band
  • Wagstaff J, Hemann M.: A familial "balanced" 3;9 translocation with cryptic insertion leading to deletion and duplication of 9p23 loci in siblings. AJHG 56:302-309, 1995. [PMC free article: PMC1801320] [PubMed: 7825591]
    Patients 1 and 2:
    46,XY,t(3;9)(p11;p22),ins(8;9)(q2;p2).
    An exciting report of a cryptic translocation between chromosomes 3 and 9 with a deletion and insertion of chromosome 9 material (p23) into the long arm of chromosome 8.
    Aberration: Simple translocation
    Variable band
  • Wandall A, Tranebjaerg L, Tommerup N.: A neocentromere on human chromosome 3 without detectable alpha-satellite DNA forms morphologically normal kinetochores. Chromosoma 107:359-365, 1998. [PubMed: 9914367]
    The proband had developmental delay and had a deletion of the centromeric region of chromosome 3. A neocentromere at 3q26 was observed.
    Proband=46,XX,der del(3)(p11q11)pat.,Father=47,XY,del(3)(p11q11),+mar.ish del(3)(wcp3+,D3Z1-),der(3)(wcp3+,D3Z1+).
    The father is considered to have borderline mental retardation.
    Aberration: Interstitial deletion
    Index Terms: Neocentromere
  • Weiss A H, Riscile G, Kousseff B G: Ankyloblepharon filiforme adnatum. AJMG 42:369-373, 1992. [PubMed: 1536181]
    Patient 3
    46,XY,t(3;11)(q21;q31.2),inv(3)(p11q13.2),t(15;21)(q22;q22).
    Two strands of extensible tissue (2mm wide) connected the approximated eyelid margins. Other congenital anomalies were present. Parental karyotypes were normal.
    Aberration: Inversion pericentric
    MIM#: 106250
    Variable band
  • Zhang S, Bui T H, Castro I, Iselius L, Hakansson S, Lundmark K M: A girl with an interstitial deletion of the short arm of chromosome 3 studied with a high-resolution banding technique. Hum. Genet. 59:178-181, 1981. [PubMed: 7327578]
    46,XX,del(3)(p11p142) de novo.,Paternal karyotype is 47,XYY.
    Patient was 15 months old and had multiple congenital anomalies.
    Aberration: Interstitial deletion
    Variable band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK107028
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