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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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15q120

15q12
  • Battaglia A, Gurrieri F, Bertini E, Bellacosa A, Pompini M G, Paravatou-Petsotas M, Mazza S, Neri G.: The inv dup(15) syndrome: a clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy. Neurology 48:1081-1086, 1997. [PubMed: 9109904]
    Battaglia A, Gurrieri F.: Case of apparent Gurrieri syndrome showing molecular findings of Angelman syndrome. AJMG 82:100, 1999. [PubMed: 9916855]
    Four patients are presented.
    47,XX or XY,+idic(15)(15pter->q12or3::q12or3->pter)de novo
    Aberration: IC,DI,UPD
    MIM#: 105830
    Chromosomal Aneuploidy: 15q+
    Index Terms: Epilepsy
  • Blennow E, Brondum-Nielsen K, Telenius H, Carter N P, Kristoffersson U, Holmberg E, Gillberg C, Nordenskjold M.: Fifty probands with extra structurally abnormal chromosomes characterized by fluorescence in situ hybridization. AJMG 55:85-94, 1995. [PubMed: 7702104]
    Cases 34 to 43.
    47,XX or XY, i dic(15)(pter->q12-13::q12-13->pter)de novo.
    Mental retardation.
    Aberration: IC,DI
    Chromosomal Aneuploidy: 15q+
    Positive band
  • Bray G A, Dahms W T, Swerdloff R S, Fiser R H, Atkinson R L, Carrel R E: The Prader-Willi syndrome: A study of 40 patients and a review of the literature. Medicine 62:59-80, 1983. [PubMed: 6338343]
    del(15)(q12).
    Aberration: Interstitial deletion
    MIM#: 176270
    Index Terms: Prader-Willi ... Critical Region (PWCR)
    Positive band
  • Cassidy S B, Gainey A J, Butler M G: Occupational hydrocarbon exposure among fathers of Prader-Willi syndrome patients with and without deletions of 15q. AJHG 44:806-810, 1989. [PMC free article: PMC1715664] [PubMed: 2729276]
    Labidi F, Cassidy S B: A blind prometaphase study of Prader-Willi-Syndrome: Frequency and consistency in interpretation of del 15q. AJHG 39:452-460, 1986. [PMC free article: PMC1683985] [PubMed: 3464201]
    13 cases of PWS were examined. PWS can exist without 15q deletion at the 850-1000 band level.
    del(15)(q11q13).
    Aberration: Interstitial deletion
    MIM#: 176270
    Index Terms: Prader-Willi ... Critical Region (PWCR)
    Positive band
  • Fraccaro M, Zuffardi O, Buhler E, Schinzel A A, Simoni G, Witkowski R, Bonifaci E, Caufin D, Cignacco G, Delendi N, Gargantini L, Losanowa T, Marca L, Ullrich E, Vigi V: Deficiency, transposition, and duplication of one 15q region may be alternatively associated with Prader-Willi (or a similar) syndrome. Analysis of seven cases after varying ascertainment. Hum. Genet. 64:388-394, 1983. [PubMed: 6618490]
    Case 3.
    45,XX,-15,-18,+der(18),t(15;18)(18pter -> 18q23::15q12 -> 15qter).
    Aberration: Whole-arm translocations
    Index Terms: Prader-Willi ... Critical Region (PWCR)
    Positive band
  • Golden W L, Hanchett J M, Breslin N, Steele M W: Prader-Willi syndrome in Black females. Clin. Genet. 26:161-163, 1984. [PubMed: 6467668]
    Golden W L, Sudduth K W, Burnett S H, Kelly T E.: Mosaicism in Prader-Willi syndrome: detection using fluorescent in situ hybridization. AJMG 85:424-425, 1999. [PubMed: 10398272]
    The 1999 report documents a case of mosaicism by FISH.
    46,XX,(15pter -> 15q12::15q12 -> 15qter).
    Aberration: Interstitial deletion
    MIM#: 176270
    Index Terms: Prader-Willi ... Critical Region (PWCR)
    Positive band
  • Greenberg F, Elder F F B, Ledbetter D H: Neonatal diagnosis of Prader-Willi syndrome and its implications. AJMG 28:845-856, 1987. [PubMed: 3688023]
    Patient 1 MR was 27 months old.
    mos45,XY,-15,-19,+der(19),t(15;19)(q12;q13.3)/45,XY,-15,-20, +der(20),t(15;20)(q12;q13.33)del(15)(pter -> q12).
    Aberration: Simple translocation
    MIM#: 176270
    Index Terms: Prader-Willi ... Critical Region (PWCR)
    Positive band
  • Herva R, Vuorinen O: Congenital heart disease with del(15q) mosaicism. Clin. Genet. 17:26-28, 1980. [PubMed: 7389182]
    46,XY/46,XY,del(15)(q12 -> q14).&The child had small mouth, lips were thin, testes were undescended, nasal bridge was prominent and the nostrils anteverted. The ears were small and low-set and the hair was gray. He had micrognathia, a simian crease on both palms and congenital heart defect.
    Aberration: Interstitial deletion
    Index Terms: Congenital heart defects (cardiovascular anomalies),Ears ... low-set,Ears ... small,Hair ... grey,Lips ... thin,Micrognathia,Mouth ... small,Testes ... undescended (cryptorchidism)
    Positive band
  • Hoo J J, Chao M C, Samuel I P, Morgan A M: Proximal 15q variant as possible pitfall in the cytogenetic diagnosis of Prader-Willi syndrome. Clin. Genet. 37:161-166, 1990. [PubMed: 2323086]
    Patient K.V.
    Comment has been made about the presence of a polymorphism on chromosome 15 which may confound the diagnosis of deletion in case of Prader-Willi syndrome. I have also encountered this problem in a few cases in our laboratory (DSB).
    Aberration: Marker chromosome
    MIM#: 176270
    Positive band
  • Hoo J J: Routine application of high resolution chromosome analysis. AJMG 24:533-537, 1986. [PubMed: 3728572]
    46,XY var(15)(cen -> q12).
    Aberration: Marker chromosome
    Positive band
  • Jalal S M, Day D W, Garcia M, Benjamin T, Rogers J: Familial transmission of 16p trisomy in an infant. Hum. Genet. 81:196-198, 1989. [PubMed: 2912890]
    Mother-46,XX,t(15;16)(q12;p11).&"47,XX,+der t(15;16)(15pter -> 15q12::16p11 -> 16pter)mat."
    It is suggested that 16p trisomy patients have severe developmental delay, psychomotor retardation, typical facies, and anomalies of the extremities.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 16p+
    Positive band
  • Kerbeshian J, Burd L, Randall T, Martsolf J T, Jalal S M: Autism, profound mental retardation and atypical bipolar disorder in a 33-year-old female with a deletion of 15q12. J. Ment. Def. Res. 34:205-210, 1990. [PubMed: 2342095]
    Patient J was 33 years old.
    46,XX,del(15)(q12).
    Aberration: Interstitial deletion
    MIM#: 125480
    Chromosomal Aneuploidy: 15q-
    Index Terms: Autis(m)(tic),Bipolar disorder
    Positive band
  • Kirchhoff M, Rose H, Lundsteen C.: High resolution comparative genomic hybridisation in clinical cytogenetics. J. Med. Genet. 38:740-744, 2001. [PMC free article: PMC1734756] [PubMed: 11694545]
    Case No. 23=47,XY,+mar.rev ish enh(15)(q12q12)pat.
    Case ascertained prenatally, with continued pregnancy.
    Chromosomal Aneuploidy: 15q+
  • Knight L A, Lipson M H, Mann J, Bachman R: Mosaic inversion duplication of chromosome 15 without phenotypic effect: occurrence in a father and daughter. AJMG 17:649-654, 1984. [PubMed: 6585144]
    47,XX or XY,+inv dup(15)(pter -> q12::q12 -> pter).
    Aberration: Duplication
    Positive band
  • Kousseff B G, Diamond T, Essig Y P, Miller K, Tedesco T A: Unique mosaicism in Prader-Labhart-Willi syndrome--a contiguous gene or aneuploidy syndrome? AJMG 28:803-811, 1987. [PubMed: 3688018]
    Patient M.W. was 16 years old.
    mos45,X,t(Y;15)del(15)(pter -> q12)/46,X,t(Y;15),dic(15)(pter -> q12::q12 -> pter)/47,X,t(Y;15),dic(15),dic(15).
    MIM#: 176270
    Index Terms: Prader-Willi ... Critical Region (PWCR)
    Positive band
  • Kurosawa K, Harada N, Sosokina N, Niikawa N, Saitoh S, Matsumoto N.: Unmasking 15q12 deletion using microarray-based comparative genomic hybridization in a mentally retarded boy with r(Y). AJMG DOI=10.1002/ajmg.a.30260; 130A:322-324, 2004. [PubMed: 15378544]
    45,X[34]/46,X,r(Y)de novo[20]/47,X,r(Y),r(Y)[6].ish(DXZ1+,DYZ3++,RP11-125E1(SNRPN)-,RP11-171C8(UBE3A)-
    Aberration: Interstitial deletion
    MIM#: 105830
    Chromosomal Aneuploidy: 15q-
    Index Terms: M-CGH,AS
  • Ludowese C J, Thompson K J, Sekhon G S, Pauli R M: Absence of predictable phenotypic expression in proximal 15q duplications. Clin. Genet. 40:194-201, 1991. [PubMed: 1773534]
    Ten cases, A-J, are described.
    46,XX or XY,dup(15)(q12.2 -> q13.1).
    It is suggested that duplication of this region is phenotypically silent.
    Aberration: DU,MA
    Chromosomal Aneuploidy: 15q+
    Positive band
  • Mattei M G, Souiah N, Mattei J F: Chromosome 15 anomalies and the Prader-Willi syndrome: cytogenetic analysis. Hum. Genet. 66:313-334, 1984. [PubMed: 6373566]
    45,XY,-15,-22,+t(15;22)(q12;p11).
    Aberration: Reciprocal translocation
    Index Terms: Prader-Willi ... Critical Region (PWCR)
    Positive band
  • Miny P, Basaran S, Kuwertz E, Holzgreve W, Pawlowitzki I H: Inv dup (15): prenatal diagnosis and postnatal follow-up. Prenat. Diag. 6:303-306, 1986. [PubMed: 3748995]
    The patient did not have significant physical abnormalities, but developed severe mental and motor retardation in the second half of first year.
    47,XY,+inv dup(15)(pter -> q12::q12 -> pter), der(22p+)mat.
    Aberration: Dicentric chromosome
    Index Terms: Motor retardation
    Positive band
  • Moric-Petrovic S, Laca Z, Krstic A, Zivkov M: A new case of Prader-Willi syndrome with chromosomal aberration. J. Med. Genet. 18:481, 1981. [PMC free article: PMC1048802] [PubMed: 7334512]
    45,XX,-15,-19,+der(19)t(15;19)(q12;q13).&Parental karyotypes were normal.
    Aberration: Simple translocation
    MIM#: 176270
    Index Terms: Prader-Willi ... Critical Region (PWCR)
    Positive band
  • Pettigrew A L, Gollin S M, Greenberg F, Riccardi V M, Ledbetter D H: Duplication of proximal 15q as a cause of Prader-Willi syndrome. AJMG 28:791-802, 1987. [PubMed: 3688017]
    Patients were 9 and 12 years old respectively.
    46,XX or XY,der(15)dup(15q)(q11q12 or q12q13)?
    MIM#: 176270
    Index Terms: Prader-Willi ... Critical Region (PWCR)
    Positive band
  • Riordan D, Dawson A J.: The evaluation of 15q proximal duplications by FISH. Clin. Genet. 54:517-521, 1998. [PubMed: 9894799]
    Six patients were studied.
    It is hypothesized that the dup(15)(q12) is a centromeric variant. Some had a large alpha satellite variant with D15Z.
    Aberration: MA,DU
    Chromosomal Aneuploidy: 15q+
  • Tonk V, Wyandt H E, Michand L, Milunsky A: Deletion of 15q12 in Angelman syndrome: report of 3 new cases. Clin. Genet. 42:229-233, 1992. [PubMed: 1486699]
    Cases 1 (C.H.); 2 (T.L.); and 3 (B.S.).
    46,XX or XY,del(15)(q12).
    Aberration: Interstitial deletion
    MIM#: 105830
    Chromosomal Aneuploidy: 15q-
    Index Terms: Angelman syndrome
    Positive band
  • Tonk V, Wyandt H E, Osella P, Skare J, Wu B L, Haddad B, Milunsky A.: Cytogenetic and molecular cytogenetic studies of a case of interstitial deletion of proximal 15q. Clin. Genet. 48:151-155, 1995. [PubMed: 8556823]
    46,XY,del(15)(q12q14).
    The 4 month old patient is compared with 2 other similar cases and distinct from PWS and AS.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 15q-
    Positive band
  • Toth-Fejel S, Magenis R E, Leff S, Brown M G, Comegys B, Lawce H, Berry T, Kesner D, Webb M J, Olson S.: Prenatal diagnosis of chromosome 15 abnormalities in the Prader-Willi/Angelman syndrome region by traditional and molecular cytogenetics. AJMG 55:444-452, 1995. [PubMed: 7762584]
    Case 4, CK:
    46,XY,inv(15)(pter->q12::q26->q2-q26->qter)de novo.
    The pregnancy was terminated.
    Aberration: Inversion paracentric
    Index Terms: Pader-Willi ... syndrome, Angelman syndrome
    Positive band
  • Voullaire L E, Webb G C, Leversha M: Fragile X testing in a diagnostic cytogenetics laboratory. J. Med. Genet. 26:439-442, 1989. [PMC free article: PMC1015647] [PubMed: 2473208]
    46,XY,del(15)(q12q15)de novo.
    Aberration: Interstitial deletion
    Positive band
  • Wajntal A, Moretti-Ferriera D, de Souza D H, Koiffmann C P: Cytogenetic evidence of involvment of chromosome regions 15q12 and 12q15 in conditions with associated overgrowth. DNA and Cell Biol. 12:227-231, 1993. [PubMed: 8466645]
    Patient 1, ARA, 031284.
    45,XY,t(15;15)(qter -> p11::q12 or 3 -> qter)de novo.
    Aberration: Robertsonian translocations
    Index Terms: Overgrowth
    Positive band
  • Wenger S L, Cummins J H.: Fluorescent in situ hybridization for evaluation of Prader-Willi and Angelman syndromes. AJMG 57:639, 1995. [PubMed: 7573146]
    45,XX,-3,-15,+der(3)t(3;15)(q29;q12).
    The newborn with hypotonia and probable diagnosis of PWS was studied. FISH analysis showed that the proximal region of 15q was also deleted in this patient.
    Aberration: ST,ID
    Chromosomal Aneuploidy: 15q-
    Index Terms: PWS, AS
    Positive band
  • Wenger S L, Cummins J H.: Fluorescent in situ hybridization for evaluation of Prader-Willi and Angelman syndromes. AJMG 57:639, 1995. [PubMed: 7573146]
    SNRPN and GABRB3 probes are being used.
    45,XX,-3,-15,+der(3)t(3;15)(q29;q12).
    The newborn infant with hypotonia and a probable diagnosis of PWS was karyotyped. FISH analysis showed that the translocated chromosome resulted with a deletion of 15 proximal segment.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 15q-
    Index Terms: AS, PWS
    Positive band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106052
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