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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-.

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Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].

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15p100

15p10
  • Bannerman R M, Marinello M J, Cohen M M, Lockwood C: A family with an inherited marker chromosome (46,D-,mar15+). AJHG 23:281-188, 1971. [PMC free article: PMC1706723] [PubMed: 5089844]
    Aberration: Marker chromosome
    No band
  • Bartsch-Sandhoff M: Fusion of homologous chromosomes (15q15q) as cause of recurrent abortion. Lancet 1:551, 1977. [PubMed: 65652]
    45,XY,t(15q15q).,Couple had eight spontaneous abortions. Karyotyping of fetal material from the ninth abortion revealed a normal 46,XX karyotype]
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    No band
  • Benitez J, Rivera L, Ramos C, Tejedor E, Sanchez-Cascos A: Translocation of a supernumerary Y to a 15: study of six cases (three males and three females) in three generations. Hum. Genet. 48:191-194, 1979. [PubMed: 457142]
    No band
  • Buhler E M: Unmasking of heterozygosity by inherited balanced translocations. Implications for prenatal diagnosis and gene mapping. Ann. Genet. 26:133-137, 1983. [PubMed: 6606374]
    Case 2 (J. G.) t(15q;15q); first patient ever reported with PWS by Buhler et al, 1963.
    Aberration: Robertsonian translocations
    No band
  • Butler M G: Are specific short arm variants or heteromorphisms over-represented in the chromosome 15 deletion in Angelman or Prader-Willi syndrome patients? AJMG 50:42-44, 1994. [PubMed: 8160752]
    Connerton-Moyer K J, Nicholls R D, Schwartz S, Driscoll D J, Hendrickson J E, Williams C A, Pauli R M.: Unexpected familial recurrence in Angelman syndrome. AJMG 70:253-260, 1997. [PubMed: 9188662]
    Nicholls R D: Commentary: recombination model for generation of a submicroscopic deletion in familial Angelman syndrome. Hum. Mol. Genet. 3:9-11, 1994. [PubMed: 8162058]
    Zackowski J L, Bent-Williams A, Gray B A: Are specific short arm variants or heteromorphisms over-represented in the chromosome 15 deletion in Angelman or Prader-Willi syndrome patients? AJMG 50:45, 1994. [PubMed: 8160752]
    Zackowski J L, Nicholls R D, Gray B A, Bent-Williams A, Gottlieb W, Harris P J, Waters M F, Driscoll D J, Zori R T, Williams C W: Cytogenetic and molecular analysis in Angelman syndrome. AJMG 46:7-11, 1993. [PubMed: 8098583]
    Butler studied 34 PWS and 4 AS patients. Both authors find a preponderance of variant chromosome 15s in these syndrome patients.
    Aberration: MA,ID
    Chromosomal Aneuploidy: 15q-,15p+
    Index Terms: Prader-Willi syndrome,Angelman syndrome
    No band
  • Chen T R, Kao M L, Marks J, Chen Y Y: Polymorphic variants in human chromosome 15. AJMG 9:61-66, 1981. [PubMed: 7246620]
    8 polymorphic variants were found using Q, C, Q-C and Ag-NOR staining methods.
    Aberration: Marker chromosome
    No band
  • Coco R, Penchaszadeh V B: Frequency of chromosomal aberrations in 131 patients with multiple congenital malformations and mental retardation. J. Ped. 89:325 (Abstr.), 1976.
    46,XX,inv(15).&46,XY,der(15q)mat.
    Aberration: Inversion pericentric
    No band
  • Crandall B F, Carrel R E, Sparkes R S: Chromosome findings in 700 children referred to a psychiatric clinic. J. Ped. 80:62-68, 1972. [PubMed: 5016354]
    Crandall B F, Sparkes R S: Pericentric inversion of a number 15 chromosome in nine members of one family. Cytogenetics 9:307-316, 1970. [PubMed: 4097524]
    46,XX and XY,inv(15)(pq).&46,XX and XY,der(15)inv(15)(pq)mat and pat.
    Aberration: Inversion pericentric
    Index Terms: Psychiatric problems
    No band
  • Emberger J M, Rossi D, Jean R, Bounet H, Dumas R: A ring D chromosome (46,XY,15r). Humangenetik 11:295-299, 1971. [PubMed: 5550594]
    46,XY,r(15).&The ring chromosome was identified as No. 15 by autoradiography.
    Aberration: Ring chromosome
    No band
  • Farrell S A, Winsor E J T, Markovic V D: Moving satellites and unstable chromosome translocations: clinical and cytogenetic implications. AJMG 46:715-720, 1993. [PubMed: 8362916]
    Case 1:
    46,XY,13p+ (amniotic fluid, cord blood, and cord fibroblasts).,46,XY,21p+ = Father.
    Case 2:
    46,XX,15p+(24/30 cells)/46,XX,14p+(6/30 cells).,46,XY,15p+ =father.
    Caution is advised in these type of cases especially in prenatal situations.
    Aberration: Marker chromosome
    Index Terms: Satellites moving,Translocation ... unstable
    No band
  • Forabosco A, Dutrillaux B, Vazzoler G, Lejeune J: Ring chromosome 15: r(15) identification by controlled heating. Ann. Genet. 15:267-270, 1972. [PubMed: 4539486]
    46,XY,r(15).
    Aberration: Ring chromosome
    No band
  • Fraccaro M, Zuffardi O, Buhler E M, Jurik L P: 15/15 translocation in Prader-Willi syndrome. J. Med. Genet. 14:275-276, 1977. [PMC free article: PMC1013583] [PubMed: 72821]
    45,XY,t(15q15q).,Suggestion has been made that a Prader-Willi type syndrome may be resulting from a deletion of the short arm of chromosome 15.
    Aberration: Robertsonian translocations
    MIM#: 176270
    Index Terms: Prader-Willi ... Critical Region (PWCR),Willi-Prader syndrome
    No band
  • Friedrich U, Caprani M, Niebuhr E, Therkelsen A J, Jorgensen A L.: Extreme variant of the short arm of chromosome 15. Hum. Genet. 97:710-713, 1996. [PubMed: 8641684]
    46,XX,15ps+.
    The patient was studied because of two spontaneous abortions.
    The extra region includes duplicated segments of satellite III, and beta-satellite.
    Aberration: Marker chromosome
    Chromosomal Aneuploidy: 15p+
    No band
  • Fujimaki W, Baba K, Tatara K, Umezu R, Kusakawa S, Mashima Y: Ring chromosome 15 in a mother and her children. Hum. Genet. 76:302, 1987. [PubMed: 3596600]
    Mother and her two children had the ring chromosome.
    46,XX,r(15).
    Aberration: Ring chromosome
    No band
  • German J: Studying chromosomes today. Am. Sci. 58:182-201, 1970. [PubMed: 4244681]
    46,XY,15p+.&46,XY,der(15p+)pat.
    Aberration: Marker chromosome
    No band
  • Jalal S M, Day D W, Nelson M C: Rare 15q duplication in an abortus. AJMG 33:422-423, 1989. [PubMed: 2801780]
    46,XY,-15,+t(15q15q)de novo.
    The abortus was estimated to be at 7-10 weeks of gestation.
    Aberration: Robertsonian translocations
    Chromosomal Aneuploidy: 15q+
    No band
  • Kleefstra T, de Leeuw N, Wolf R, Nillesen W M, Schobers G, Mieloo H, Willemsen M, Perrotta C S, Poddighe P J, Feenstra I, Draaisma J, van Ravenswaaij-Arts C M A.: Phenotypic spectrum of 20 novel patients with molecularly defined supernumerary marker chromosomes 15 and a review of the literature. AJMG Part A: 152A: 2221-2229, 2010. [PubMed: 20683990]
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 15p+
    Index Terms: SMC(15)
  • Laszlo J: Primary gonadal hypoplasia and dysmorphic features in ring chromosome 15 syndrome. Clin. Genet. 21:350, 1982. [PubMed: 7116681]
    r(15).
    Aberration: Ring chromosome
    Index Terms: Gonadal dysgenesis ... hypogonadism,Hypogonadism
    No band
  • Lin C C, De Braekeleer M, Jamro H: Cytogenetic studies in spontaneous abortion: the Calgary experience. Canad. J. Genet. Cytol. 27:565-570, 1985. [PubMed: 4063875]
    46,XX,t(15q15q).
    Aberration: Robertsonian translocations
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    No band
  • Machin G A: Chromosome abnormality and perinatal death. Lancet 1:549-551, 1974. [PubMed: 4131984]
    Machin G A, Crolla J A: Chromosome constitution of 500 infants dying during the perinatal period. Humangenetik 23:183-198, 1974. [PubMed: 4844640]
    Case No. 27 in this report.
    46,XX,15p+.
    Index Terms: Perinatal death
    No band
  • Martiniuk F, Hirschhorn R, Smith M: Assignment of the gene for human neutral alpha-glucosidase C to chromosome 15. Cytogenet. Cell Genet. 27:168-175, 1980. [PubMed: 6995030]
    MIM#: 104180
    No band
  • Michels V V, Medrano C, Venne V L, Riccardi V M: Chromosome translocations in couples with multiple spontaneous abortions. AJHG 34:507-513, 1982. [PMC free article: PMC1685330] [PubMed: 7081226]
    46,XX,inv(15).
    Aberration: Inversion pericentric
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    No band
  • Mikelsaar A V N, Tuur S J, Kyaosaar M E: Human karyotype polymorphism. I. Routine and fluorescence microscopic investigation of chromosomes in a normal adult population. Humangenetik 20:89-101, 1973. [PubMed: 4785172]
    Aberration: Marker chromosome
    No band
  • Moreau N, Teyssier M: Ring chromosome 15: Report of a case in an infertile man. Clin. Genet. 21:272-279, 1982. [PubMed: 7105474]
    Patient Jean-Pierre S., 220947, was 34 years old.
    46,XY,r(15).
    Aberration: Ring chromosome
    Index Terms: Sterility ... male
    No band
  • Moreau N, Teyssier M: Variant D and G-chromosomes in male-related infertility. Arch. Androl. 9:307-310., 1982. [PubMed: 7165411]
    Positive correlation existed between the frequency of acrocentric variants and sterility. The authors attributed this due possibly to an increase of risk for satellite association and of nondisjunction leading to aneuploidy in gametes.
    Aberration: Marker chromosome
    Index Terms: Sterility,Satellite association,Nondisjunction
    No band
  • Neumann A A, Robson L G, Smith A: "A 15p+ variant shown to be a t(Y;15) with fluorescence in situ hybridisation." Ann. Genet. 35:227-230, 1992. [PubMed: 1296520]
    46,XX,15p+ ie t(Yq;15p).
    Aberration: Simple translocation
    No band
  • Nielsen J, Friedrich U, Hreidarsson A B, Noel B, Quack B, Mottet J: Brilliantly fluorescing enlarged short arms D or G. Lancet 1:1049-1050, 1974. [PubMed: 4133722]
    Aberration: Marker chromosome
    No band
  • Otto J, Back E, Furste H O, Abel M, Bohm N, Pringsheim W: Dysplastic features, growth retardation, malrotation of the gut, and fatal ventricular septal defect in a 4-month-old girl with ring chromosome 15. Europ. J. Ped. 142:229-231, 1984. [PubMed: 6468449]
    Patient K.L.(Journal No. 41.65779.9, autopsy no. (SN P619/82)). Parental karyotypes were normal.
    46,XX,r(15)(p1q2).
    Aberration: Ring chromosome
    No band
  • Perez-Castillo A, Martin-Lucas M A, Abrisqueta J A: New insights into the effects of extra nucleolus organizer regions. Hum. Genet. 72:80-82, 1986. [PubMed: 3455920]
    A family study on few individuals is reported.
    46,XX and XY,15p+.
    Aberration: Marker chromosome
    No band
  • Pfeiffer R A, Dhadial R K, Lenz W: 46,XX/46,XX,r(15) mosaicism. Report of a case. J. Med. Genet. 14:63-65, 1977. [PMC free article: PMC1013510] [PubMed: 839504]
    Patient was five years old with hypoplasia of the thumbs, club feet, mental retardation and short stature. Karyotypes of parents were normal.
    Aberration: Ring chromosome
    Index Terms: Foot ... talipes equinovarus (club foot),Stature ... short (low),Thumbs ... hypoplastic
    No band
  • Phelan M C, Saul R A: Partial trisomy 15. Proc. Greenwood Genet. Ctr. 4:43-46, 1985.
    Patient C.P.
    47,XY,+inv dup (15).
    No band
  • Piccini I, Ballarati L, Bassi C, Rocchi M, Marozzi A, Ginelli E, Meneveri R.: The structure of duplications on human acrocentric chromosome short arms derived by the analysis of 15p. Hum. Genet. 108:467-477, 2001. [PubMed: 11499671]
    ''In different individuals, the short arm of acrocentric chromosomes revealed a great variability of sequence representation and location at p11 and/or p13 for both the 4q24 and 4q35 duplications.''
    Aberration: MA,DU
  • Rumenic L, Joksimovic I, Anaf M: Ring chromosome 15 in child with a minor dysmorphism of phenotype. Hum. Genet. 33:187-188, 1976. [PubMed: 939571]
    Proband V.E. in this report.
    Aberration: Ring chromosome
    No band
  • Schmickel R D, Poznanski A, Himebaugh J: 16q trisomy in a family with a balanced 15/16 translocation. BD-OAS XI(No. 5):229-236, 1975. [PubMed: 1218219]
    46,XY,t(15;16)(p1;p1).,46,XX and XY,der(15)der(16)t(15;16)(p1;p1)pat.,47,XY,+der(16)t(15;16)(p1;p1)mat.
    Aberration: Simple translocation
    No band
  • Schnedl W, Abraham R, Dann O, Geber G, Schweizer D: Preferential fluorescent staining of heterochromatic regions in human chromosomes 9, 15 and the Y by D287/170. Hum. Genet. 59:10-13, 1981. [PubMed: 10819015]
    No band
  • Schreck R R, Breg W R, Erlanger B F, Miller O J: Preferential derivation of abnormal human G-group-like chromosomes from chromosome 15. Hum. Genet. 36:1-12, 1977. [PubMed: 323137]
    No band
  • Sciorra L J, Rajendra B R, Cummings E, Ekblom L, Lee M L: The usefulness of NOR and RFA banding in prenatal diagnosis: A case report. AJMG 10:147-149, 1981. [PubMed: 7315871]
    A familial variant 15p+ chromosome is described.
    Aberration: Marker chromosome
    No band
  • Smeets D F C M, Merkx G F M, Hopman A H M: Frequent occurrence of translocations of the short arm of chromosome 15 to other D-group chromosomes. Hum. Genet. 87:45-48, 1991. [PubMed: 2037282]
    Smeets D F C M, Merkx G F M, Hopman A H M: Chromosome 15p marker D15Z1 frequently maps to the short arm of other D-group chromosomes. Hum. Genet. 88:365, 1992. [PubMed: 1733845]
    Stergianou K, Gould C P, Waters J J, Hulten M A: High population incidence of the 15p marker D15Z1 mapping to the short arm of one homologue 14. Hum. Genet. 88:364, 1992. [PubMed: 1733844]
    Aberration: Marker chromosome
    No band
  • Smith R L, Campbell T J, Berg M J, Maguire N C, McMorrow L E: A case of inv dup(15) confirmed by in situ hybridization. Applied Cytogenet. 18:193-195, 1992.
    47,XX,+inv dup(15).
    The 5 year-old was evaluated for developmental delay.
    Distamycin A/DAPI and D15Z1 probe was useful in identifying the marker chromosome.
    Aberration: PI,DU
    No band
  • Spowart G: Reassessment of presumed Y/22 and Y/15 translocations in man using a new technique. Cytogenet. Cell Genet. 23:90-94, 1979. [PubMed: 83932]
    Using the technique of distamycin A plus DAPI (4,6-diamidino-2-phenyl-indol-2HCl) it has been found that 15p+ cases may be examples of 15/Y translocations whereas 22p+ material is not derived from Yq.
    No band
  • Stoll C, Juif J G, Luckel J C, Lausecker C: Ring chromosome 15:r(15). Identification by R banding. Humangenetik 27:259-262, 1975. [PubMed: 50276]
    46,XX,r(15).
    Aberration: Ring chromosome
    No band
  • Stoll C, Paira M, Levy J M: 15p+ familial chromosome with multiple malformations in a new-born child. Ann. Ped. 21:179-183, 1974.
    46,XY,15p+.&The familial 15p+ chromosome was present in clinically normal relatives.
    Aberration: Marker chromosome
    No band
  • Teyssier M, Moreau N: Interet des techniques argentiques pour l''etude de chromosomes acrocentriques en anneau et de microchromosomes surnumeraires. C. R. Soc. Biol. 178:251-256, 1984. [PubMed: 6208982]
    Subject No. 1.
    mos45,XY,-15(2%)/46,XY,(5%)/46,XY,r(15)(93%).
    Aberration: Ring chromosome
    No band
  • Therkelsen A J, Petersen G B, Steenstrup O R, Jonasson J, Lindsten J, Zech L: Prenatal diagnosis of chromosome abnormalities. Acta Paed. Scand. 61:397-404, 1972. [PubMed: 4261201]
    Case No. 91 in this report.
    46,XX,t(15;19)(p1;q1).,46,XY,der(15)der(19)t(15;19)(p1;q1)mat.
    Aberration: Simple translocation
    No band
  • Verma R S, Kleyman S M, Conte R A.: Molecular characterization of an unusual variant of the short arm of chromosome 15 by FISH-technique. Jpn. J. Hum. Genet. 41:307-311, 1996. [PubMed: 8996966]
    46,XY,15ps+
    The 4 year old was being evaluated for speech delay. The short arm region was fluorescing brightly by Q banding technique but negative for Y WCP.
    Aberration: Marker chromosome
    No band
  • Watson E J, Scrimgeour J B: A dicentric No. 15 chromosome with two satellite regions. J. Med. Genet. 14:381-383, 1977. [PMC free article: PMC1013626] [PubMed: 592356]
    An amniotic fluid had an interesting pattern, interpreted as: 46,XY,dir dup(15)(pter->cen->q11::p13->q11::q11->qter). Alternatively it could be 46,XY,-15,+dic,t(?;15)(q11;p13).,No further studies in the family were possible.
    Aberration: Dicentric chromosome
    No band
  • Werner W, Herrmann F H: Analysis of a familial 15p+ polymorphism: exclusion of Y/15 translocation. Clin. Genet. 26:204-208, 1984. [PubMed: 6478640]
    Aberration: Marker chromosome
    No band
  • Wisniewski L, Hassold T J, Heffelfinger J, Higgins J V: Cytogenetic and clinical studies in five cases of inv dup(15). Hum. Genet. 50:259-270, 1979. [PubMed: 489010]
    47,XX and XY,+inv dup(15)(pter->q1::p1 or q1->pter).
    Aberration: Inversion pericentric
    No band
  • Wisniewski L P, Doherty R A: Supernumerary microchromosomes identified as inverted duplications of chromosome 15: a report of three cases. Hum. Genet. 69:161-163, 1985. [PubMed: 3972417]
    Case 1.
    47,XY,+inv dup(15).
    Case 2.
    mos46,XY/48,XY,+inv dup(15),+inv dup(15).
    Case 3.
    47,XY,+inv dup(15).
    Aberration: Inversion pericentric
    No band
  • Wisniewski Lu, Pronicka E, Lech H, Niezabitowska A: The child with chromosome ring 15. Klin. Paed. 191:429-432, 1979. [PubMed: 572892]
    19 month old patient with short stature, small skull and slight psychomotoric retardation is discussed. Mother''s karyotype was normal.
    46,XY,r(15)(p1q25 or 26).
    Aberration: Ring chromosome
    Index Terms: Stature ... short (low)
    No band
  • Yoder F E, Bias W B, Borgaonkar D S, Bahr G F, Yoder I I, Yoder O C, Golomb H M: Cytogenetic and linkage studies of a familial 15p+ variant. AJHG 26:535-548, 1974. [PMC free article: PMC1762732] [PubMed: 4138462]
    46,XX and XY,15p+.,46,XX and XY,der(15p+)mat and pat.
    Aberration: Marker chromosome
    No band
  • Zizka J, Balicek P, Finkova A: Translocation D/D involving two homologous chromosomes of the pair 15. Hum. Genet. 36:123-125, 1977. [PubMed: 870408]
    Case J. S. in this report studied because of four spontaneous abortions.
    45,XX,t(15q15q).
    More work on this case has been reported by Robinson et al (1994) and cited under 140000.
    Aberration: TR,IC
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    No band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105956

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