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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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  • Same entry as in 01q440 (Villa et al, 2000).

  • Same entry as in 06p221 (Engelen et al, 2001).

  • Same entry as in 11p150 (Eggermann et al, 2005).

  • Adachi K, Hayashi M: An 18p- syndrome due to 15/18 translocation with facial palsy and deafness. Tohoku J. Exp. Med. 133:307-311, 1981. [PubMed: 7314083]
    Aberration: DI,WT
    Chromosomal Aneuploidy: 18p-
    Index Terms: Deafness,Palsy ... facial
    Variable band
  • Borghgraef M, Fryns J P, Van den Berghe H: Psychological findings in three children with ring 15 chromosome. J. Ment. Def. Res. 32:337-347, 1988. [PubMed: 3063822]
    Patients J.V., V.L.E., and B.S.
    r(15)(p12q24 or 5),r(15)(p12q25),r(15)(p11q22 or 3).
    Good summary of observations on their patients and of data in the published literature.
    Aberration: Ring chromosome
    Variable band
  • Same entry as in 03q230,03q200,05p120,07p110 (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]
    Aberration: Reciprocal translocation
    Variable band
  • Coco R, Penchaszadeh V B: "Inherited partial duplication deficiency of chromosome 15(p12;q22)." J. Genet. Hum. 26:203-210, 1978. [PubMed: 739260]
    Coco R, Penchaszadeh V B: Cytogenetic findings in 200 children with mental retardation and multiple congenital anomalies of unknown cause. AJMG 12:155-173, 1982. [PubMed: 7102722]
    46,XX,inv(15)(p12q22).&46,XY,rec(15)dup q(q22)mat.&46,XY,rec(15)(qter -> p13::q22 -> qter)mat.&The patient (Case 114), 20 months of age, presented with brachycephaly, antimongoloid slant of the palpebral fissures, dystopia canthorum, broad nose, low set ears and short fingers.
    Aberration: Inversion pericentric
    Index Terms: Brachycephaly,Ears ... low-set,Fingers ... short,Palpebral fissures ... antimongoloid slant
    Variable band
  • Same entry as in 14p120 (Daniel, 1979).

  • Same entry as in 11p110 (de et al, 1983).

  • Faivre L, Rousseau T, Laurent N, Gosset P, Sanlaville D, Thauvin-Robinet C, Cusin V, Lionnais S, Callier P, Khau Van Kien P, Huet F, Turleau C, Sagot P, Mugneret F.: Prenatal overgrowth and mosaic trisomy 15q25-qter including the IGF1 receptor gene. Prenat. Diag. 24:393-395, 2004. [PubMed: 15164417]
    Fetus=46,XY,der(15)t(15;15)(p12;q25)[12 clones]/46,XX[10 clones].
    Pregnancy was terminated.
    Fetal blood after termination showed a lower percentage,12%, of mosaicism.
    Aberration: Simple translocation
    MIM#: 147440
    Chromosomal Aneuploidy: 15q+
    Index Terms: IGF1 receptor gene
  • Fryns J P, Kleczkowska A, Buttiens M, Jonckheere P, Brouckmans-Buttiens K, Van den Berghe H: Ring chromosome 15 syndrome. Further delineation of the adult phenotype. Ann. Genet. 29:45-48, 1986. [PubMed: 3487276]
    Patient, V. H. M., was 36 years old.
    Aberration: Ring chromosome
    Variable band
  • Fryns J P, Timmermans J, D''Hondt F, Francois B, Emmery L, van den Berghe H: Ring chromosome 15 syndrome. Hum. Genet. 51:43-48, 1979. [PubMed: 500090]
    Patient B. S., 6 1/2 years old, in this report. Both parents had normal karyotypes.
    46,XX,r(15)(p12q22 or 23).&Ring chromosome 15 patients have a rather uniform phenotype characterized by slight -> moderate mental retardation, marked pre- and postnatal growth failure, triangular face, and short hands and feet.
    Patient VLE, 18 months old, in this report. Both parents had normal karyotypes.
    Aberration: Ring chromosome
    Index Terms: Face ... long triangular,Foot ... short,Hand ... short
    Variable band
  • Same entry as in 45,X (Gal et al, 1987).

  • Horigome Y, Kondo I, Kuwajima K, Suzuki T: Familial occurrence of ring chromosome 15. Clin. Genet. 41:178-180, 1992. [PubMed: 1576754]
    46,XY,der r(15)(p12q26.3)mat.
    Aberration: Ring chromosome
    Index Terms: Familial ring chromosome
    Variable band
  • Kitatani M, Takahashi H, Ozaki M, Okino E, Maruoka T: A case of ring chromosome 15 accompanied by almost normal intelligence. Hum. Genet. 85:138-139, 1990. [PubMed: 2358298]
    Patient was 12 years old and karyotyped because of short stature.
    Parental karyotypes were normal.
    Aberration: Ring chromosome
    Variable band
  • Ledbetter D H, Riccardi V M, Au W W, Wilson D P, Holmquist G P: Ring chromosome 15: Phenotype, Ag-NOR analysis, secondary aneuploidy, and associated chromosome instability. Cytogenet. Cell Genet. 27:111-122, 1980. [PubMed: 6156798]
    J.A. (TCH607229), 15 month old, with severe developmental delay and acral skeletal hypoplasia is described. Parents had normal karyotypes.&46,XX,r(15)(p12q26).
    Aberration: Ring chromosome
    Variable band
  • Lee K A, Kim S H, Lee M H, Law M E, Jalal S M.: Tandem translocation of chromosomes 22 and 15 with two preserved satellite stalk regions and deletion 22q13.3-qter. AJMG 104:291-294, 2001. [PubMed: 11754062]
    45,XX,dic(15;22)(qter->p12::q13.2->pter)de novo
    The 2 1/2 year old patient was being evaluated for developmental delay.
    Aberration: TX,DI
    Chromosomal Aneuploidy: 22q-
  • Nur Semerci C, Bahce M, Atik F, Candemir Z, Kiraz I K, Zorlu P, Gul D.: Partial trisomy 18q11.2->qter due to de novo unbalanced translocation of chromosomes 15 and 18 analyzed by flourescence in situ hybridization. Ann. Genet. 47:393-398, 2004. [PubMed: 15581838]
    46,XY,der(15)t(15;18)(p12;q11.2)de novo
    The infant had MCA.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 18q+
  • Pal Singh-Kahlon D, Serra A, Bova R: "A complex mosaic with D/E translocation t dic(15;18)(p12;p11) in an oligospermic male with apparently total infertility." Clin. Genet. 11:342-348, 1977. [PubMed: 862211]
    Case M.C. 35 years of age.
    mos45,XY,-15,-18,+t dic(15;18)(p12;p11)(93.2%)/46,XY,-15,-18,+18?p-,+t dic(15;18)(p12;p11)(2.07%)/46,XY,-15,+t dic(15;18)(p12;p11)(2.07%)/46,XY,-15,-18,+2t dic(15;18)(p12;p11)(1.03%)/46,XY,18p-,(1.03%).&"t dic(15;18)(p12;p11)."&"t dic(15;18)(15qter -> 15p12::18p11 -> 18qter)."
    Aberration: Simple translocation
    Index Terms: Oligospermia,Oligozoospermia,Sterility ... male
    Variable band
  • Same entry as in Incontinentia Pigmenti (Parcheta B et al, 1987).

  • Same entry as in 06q230 (Pivnick E K et al, 1990).

  • Same entry as in 09q110 (Sandig et al, 1979).

  • Same entry as in 03p230 (Say et al, 1976).

  • Same entry as in 04p140 (Schrocksnadel et al, 1975).

  • Smith A, den Dulk G, Viersbach R, Michas J: Ring chromosome 15 and 15qs+ mosaic: clinical and cytogenetic behaviour spanning 29 years. AJMG 40:460-463, 1991. [PubMed: 1746611]
    Patient was 59 years old with mild mental retardation, minor facial anomalies, and short stature.
    Chromosome analysis was performed 10 times between 1961 and 1990 with similar results.
    Aberration: RI,MA
    Variable band
  • Same entry as in 03q260 (Steinbach et al, 1981).

  • Testart J, Gautier E, Brami C, Rolet F, Sedbon E, Thebault A.: Intracytoplasmic sperm injection in infertile patients with structural chromosome abnormalities. Hum. Reprod. 11:2609-2612, 1996. [PubMed: 9021360]
    Aberration: Whole-arm translocations
    Index Terms: ICSI
    No band
  • Same entry as in 11p110 (Tomkins, 1981).

  • Same entry as in 0Yq120 (Xia et al, 1984).

  • Yunis E, Gonzalez J T, Torres de Caballero O M: Partial trisomy 16q-. Hum. Genet. 38:347-350, 1977. [PubMed: 914283]
    46,XX,t(15;16)(p12;q11).&"47,XX,+t(15;16)(p12;q11)."&"47,XX,+t(15;16)(16pter -> 16q11::?)."&A 5 month old patient with multiple congenital anomalies is reported. Two other pregnancies resulted in a miscarriage at 4 month and another male infant died at 3 hours after birth.
    Aberration: Simple translocation
    Variable band
  • Yunis E, Leibovici M, Quintero L: Ring (15) chromosome. Hum. Genet. 57:207-209, 1981. [PubMed: 7228035]
    Patient was 3 years old. Parent''s karyotypes were normal. Marker studies suggest a maternal origin of the ring.
    Aberration: Ring chromosome
    Variable band
  • Same entry as in 13q220 (Zergollern et al, 1980).

Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106867
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