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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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  • Adhvaryu S G, Peters-Brown T, Livingston E, Qumsiyeh M B.: Familial supernumerary marker chromosome evolution through three generations. Prenat. Diag. 18:178-181, 1998. [PubMed: 9516020]
    Amniotic fluid=mos46,XY/47,XY,+r(15)[40%] in 20 colonies.,Cord blood cells[20%]/Cord tissue[58%]/,Placenta[58%] in 50 cells each.,Mother=47,XX,+bisatellited supernumerary marker chromosome(SMC).,Grandfather=mos46,XY/47,XY,+bisatellited SMC[2%] in lymphocytes.
    Normal milestones after delivery and at one year of age.
    Aberration: Ring chromosome
  • Antson D-O, Mendel-Hartvig M, Landegren U, Nilsson M.: PCR-generated padlock probes distinguish homologous chromosomes through quantitative fluorescence analysis. Europ. J. Hum. Genet. 11:357-363, 2003. [PubMed: 12734539]
    These authors have developed a method for quantitative genotyping of single-nucleotide variants in situ using circularizable DNA probes, so-called padlock probes, targeting two different alpha satellite repeat variants present in chromosome 7 centromeres, and a single-nucleotide variation in alpha satellite repeats on chromosome 15 centromeres. They were able to follow the transmission during 3 generations.
    Aberration: Marker chromosome
    Index Terms: Padlock probes
  • Arrieta I, Nunez T, Gil A, Flores P, Perez de Nanclares G, Martinez B.: A case of Prader-Willi syndrome associated with mosaicism: cytogenetic and FISH study. Genes & Genet. Syst. (Jpa.) 71:31-36, 1996.
    The proband was 15 years old with MR, difficulties in language, hypogonadism, and small hands and feet with characteristic cranio-facial aspect.
    mos44,XX,-15,t(15q22q)/45,XX,t(15q22q).,Mother, sister and a brother:45,XX or XY,t(15q22q).
    One cell line in the proband lacks the paternal chromosome 15. All other translocation carriers are phenotypically normal. FISH studies indicate that part of the centromere of 22 is missing in the translocation chromosome.
    Aberration: TR,UPD
    MIM#: 176270
    Index Terms: Prader-Willi syndrome
    No band
  • Bassett L L, Michaelis R C, Geiger M H, tarleton J, Moore C L, Knops J F, Carroll A J, Proud V K.: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 in a boy with a balanced 3;21 translocation. AJMG 100:85-86, 2001. [PubMed: 11337756]
    Patient CM is 30 months old.
    46,XY,t(3;21)(p13;p11.2),upd(15)mat
    Aberration: UPD,ST
    MIM#: 176270
  • Bettio D, Rizzi N, Giardino D, Gurrieri F, Silvestri G, Grugni G, Larizza L.: FISH characterization of small supernumerary marker chromosomes in two Prader-Willi patients. AJMG 68:99-104, 1997. [PubMed: 8986287]
    Case 1:
    47,XY,+ish r(15)(SNRPNx1).
    Patient was 27 years old.
    No hybridization signal was detected with D15Z1.
    MIM#: 176270
    Index Terms: Prader-Willi syndrome
    No band
  • Blennow E, Bui T H, Kristoffersson U, Vujic M, Anneren G, Holmberg E, Nordenskjold M.: Swedish survey on extra structurally abnormal chromosomes in 39 105 consecutive prenatal diagnosis: prevalence and characterization by fluorescence in situ hybridization. Prenat. Diag. 14: 1019-1028, 1994. [PubMed: 7877949]
    31 cases were identified. 13 originated from chromosome 15.
    No band
  • Bottani A, Robinson W P, DeLozier-Blanchet C D, Engel E, Morris M A, Schmitt B, Thun-Hohenstein L, Schinzel A: Angelman syndrome due to paternal uniparental disomy of chromosome 15: a milder phenotype? AJMG 51:35-40, 1994. [PubMed: 8030667]
    Patients 1 (AS 112, Zurich) and 2 (AS 136, Geneva).
    No inheritance of maternal alleles of chromosome 15 and no deletion of 15q12.
    Aberration: Uniparental disomy
    Index Terms: Paternal upd
  • Brissenden J E, Page D C, de Martinville B, Trowsdale J, Botstein D, Francke U: Regional assignments of three polymorphic DNA segments on human chromosome 15. Genet. Epidemiol. 3:231-239, 1986. [PubMed: 3017806]
    The assignments are: D15S1 to 15q15 to 15q21, D15S2 to 15q15 to 15q22, and D15S6 to 15q22 to 15q24.
    No band
  • Buchholz T, Jackson J, Robson L, Smith A.: Evaluation of methylation analysis for diagnostic testing in 258 referrals suspected of Prader-Willi or Angelman syndromes. Hum. Genet. 103:535-539, 1998. [PubMed: 9860294]
    Smith A, Marks R, Haan E, Dixon J, Trent R J.: Clinical features in four patients with Angelman syndrome resulting from paternal uniparental disomy. J. Med. Genet. 34:426-429, 1997. [PMC free article: PMC1050954] [PubMed: 9152844]
    The authors (1998) conclude that methylation analysis is an excellent screening test for both syndromes.
    2 males and 2 females.
    Age range was 7 to 11 years.
    Aberration: Uniparental disomy
    MIM#: 105830
    Index Terms: AS and UPD
    No band
  • Buiting K, Barnicoat A, Lich C, Pembrey M, Malcolm S, Horsthemke B.: Disruption of the bipartite imprinting center in a family with Angelman syndrome. AJHG 68:1290-1294, 2001. [PMC free article: PMC1226110] [PubMed: 11283796]
    Buiting K, Dittrich B, Grob S, Lich C, Farber C, Buchholz T, Smith E, Reis A, Burger J, Nothen M M, Barth-Witte U, Janssen B, Abeliovich D, Lerer I, van den Ouweland A M W, Halley D J J, Schrander-Stumpel C, Smeets H, Meinecke P, Malcolm S, Gardner A, Lalande M, Nicholls R D, Friend K, Schulze A, Matthjis G, Kokkonen H, Hilbert P, Van Maldergem L, Glover G, Cabonell P, Willems P, Gillessen-Kaesbach G, Horsthemke B.: Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis. AJHG 63:170-180, 1998. [PMC free article: PMC1377255] [PubMed: 9634532]
    Cox G F, Burger J, Lip V, Mau U A, Sperling K, Wu B-L, Horsthemke B.: Intracytoplasmic sperm injection may increase the risk of imprinting defects. AJHG DOI=0002-9297/2002/7101-00XX71:, 2002. [PMC free article: PMC384973] [PubMed: 12016591]
    Dittrich B, Buiting K, Horsthemke B.: PW71 methylation test for Prader-Willi and Angelman syndromes. AJMG 61:196-197, 1996. [PubMed: 8669455]
    Buiting et al (2001) report on 2 sibs with AS who do not have an IC deletion but instead have a 1-1.5Mb inversion separating the two IC elements. The inversion is transmitted silently through the male germline but impairs maternal imprinting after transmission through the female germline. The authors suggest that the close proximity and/or the correct orientation of the two IC elements are/is necessary for the establishment of a maternal imprint.
    Cox et al report two children who were conceived by ICSI, who developed AS, and revealed a sporadic imprinting defect.
    PWS family S is of German origin. Patients W and K are German, patients P1 and P2 of family D are Yugoslavian with AS.
    The authors have identified a pair of nondeletion Angelman syndrome sibs and two isolated Angelman syndrome patients who carry a paternal methylation imprint on the maternal chromosome. A defect in the imprinting process in these patients is believed to exist. The authors propose a model in which a cis-acting mutation prevents the resetting of the imprinting signal in the germ line and thus disturbs the expression of imprinted genes in this region.
    Index Terms: AS,PWS,Imprinting
    No band
  • Calabrese G, Stuppia L, Mingarelli R, Guanciali Franchi P, Peila R, Morizio E, Antonucci A, Palka G.: Molecular characterization of two extra marker chromosomes detected at prenatal diagnosis. Ann. Genet. 37:135-138, 1994. [PubMed: 7847794]
    Case 2, M.R.:
    47,XX,+idic(15)de novo.
    The baby was normal at 12 month examination and lymphocyte culture confirmed the presence of the extra marker chromosome.
    Aberration: IC,DI
    Chromosomal Aneuploidy: 15+
    Index Terms: Marker chromosome
    No band
  • Cassidy S B, Driscoll D J.: Prader-Willi syndrome-practical genetics. Europ. J. Hum. Genet. 17: 3-13, 2009. [PMC free article: PMC2985966] [PubMed: 18781185]
    Gunay-Aygun M, Heeger S, Schwartz S, Cassidy S B.: Delayed diagnosis in patients with Prader-Willi syndrome due to maternal uniparental disomy 15. AJMG 71:106-110, 1997. [PubMed: 9215778]
    60 patients were evaluated.
    del(15)(q11q13) in 41 patients.,upd(15)mat in 19 patients: 8 with heterodisomy and 4 with isodisomy.
    Facial anomalies were in lower frequency.
    Aberration: IS,UPD
    Index Terms: upd(15)mat
  • Cassidy S B, Lai L W, Erickson R P, Magnuson L, Thomas E, Gendron R, Herrmann J: Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy. AJHG 51:701-708, 1992. [PMC free article: PMC1682792] [PubMed: 1357962]
    mos46,XX/47,XX,+15(cvs).,46,XX(amniocytes).,46,XX(peripheral newborn blood).
    The patient had typical features of PWS.
    Maternal disomy for 15 was proven by molecular methods.
    MIM#: 176270
    Index Terms: Maternal ... disomy
    No band
  • Cassidy S B.: Prader-Willi syndrome. J. Med. Genet. 34:917-923, 1997. [PMC free article: PMC1051120] [PubMed: 9391886]
    Nicholls R D, Saitoh S, Horsthemke B.: Imprinting in Prader-Willi and Angelman syndromes. Tr. In Genet. 14:194-200, 1998. [PubMed: 9613204]
    Ohta T, Buiting K, Kokkonen H, McCandless S, Heeger S, Leisti H, Driscoll D J, Cassidy S B, Horsthemke B, Nicholls R D.: Molecular mechanism of Angelman syndrome in two large families involves an imprinting mutation. AJHG 64:385-396, 1999. [PMC free article: PMC1377749] [PubMed: 9973277]
    Ohta T, Gray T A, Rogan P K, Buiting K, Gabriel J M, Saitoh S, Muralidhar B, Bilienska B, Krajewska-Walalsek M, Drsicoll D J, Horsthemke B, Butler M G, Nicholls R D.: Imprinting-mutation mechanisms in Prader-Willi syndrome. AJHG 64:397-413, 1999. [PMC free article: PMC1377750] [PubMed: 9973278]
    Saitoh S, Buiting K, Cassidy S B, Conroy J M, Driscoll D J, Gabriel J M, Gillessen-Kaesbach G, Glenn C C, Greenswag L R, Horsthemke B, Kondo I, Kuwajima K, Niikawa N, Rogan P K, Schwartz S, Seip J, Williams C A, Nicholls R D. : Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation. AJMG 68:195-206, 1997. [PubMed: 9028458]
    Zeschnigk M, lich C, Buiting K, Doerfler W, Horsthemke B.: A single-tube PCR test for the diagnosis of Angelman and Prader-Willi syndrome based on allelic methylation differences at the SNRPN locus. Europ. J. Hum. Genet. 5:94-98, 1997. [PubMed: 9195159]
    5 AS and 2 PWS patients were studied.
    Uniparental DNA methylation in 15q11-q13 region.
    These patients had a normal karyotype with no evidence of deletion, translocation or UPD. DNA methylation analysis with loci DN34/ZNF127, PW71 (D15S63), and SNRPN loci. A brand new class of these two syndromes.
    Aberration: UPM
    Index Terms: Uniparental DNA methylation (UPM),Angelman syndrome,Prader-Willi syndrome,SNRPN
    No band
  • Christian S L, Smith A C M, Macha M, Black S H, Elder F F B, Johnson J M P, Resta R G, Surti U, Suslak L, Verp M S, Ledbetter D H.: Prenatal diagnosis of uniparental disomy 15 following trisomy 15 mosaicism. Prenat. Diag. 16:323-332, 1996. [PubMed: 8734806]
    Seven cases were studied.
    2/7 cases showed UPD.
    It is recommended that UPD testing should be offered in all cases of mosaic trisomy 15 encountered in cvs and/or amniocentesis.
    Aberration: Uniparental disomy
    No band
  • Connor J M, Gilmore D H: Inv dup (15). J. Med. Genet. 21:473, 1984. [PMC free article: PMC1049272] [PubMed: 6748020]
    Connor J M, Gilmore D H: An analysis of the parental age effect for inv dup (15). J. Med. Genet. 21:213-214, 1984. [PMC free article: PMC1049268] [PubMed: 6748017]
    A significant maternal age effect was apparent. It was found that the mother is the usual source of the extra chromosome in inv dup (15).
    No band
  • Couper R T L, Couper J J.: Eponym. Prader-Willi syndrome. Lancet 356:673-675, 2000. [PubMed: 10968453]
    46,XX,upd(15)m
    A 22 year old is described with a good overall review.
    Aberration: Uniparental disomy
    MIM#: 176270
    Index Terms: Prader-Willi syndrome
    No band
  • Crolla J A, Harvey J F, Sitch F L, Dennis N R.: Supernumerary marker 15 chromosomes: a clinical, molecular and FISH approach to diagnosis and prognosis. Hum. Genet. 95:161-170, 1995. [PubMed: 7532149]
    17 patients, with either de novo or familial mar(15) chromosomes, were studied.
    Case 1 (DD0534, at ECACC, Porton Down).
    47,XY,+psudic(15)/48,XY,+psudic(15),+psudic(15)de novo.
    Referred because of developmental delay when one year old, now at age 18 years he has severe MR
    Case 13 (DD1342):
    mos46,XY/47,XY,+mar.
    At age 34 years studied because of neonatal death, otherwise he is normal.
    Case 14 (DD1637):
    47,XY,+mar(15)(pter->cen::cen->pter)mat.
    Mother and sister (carrier) are normal. Referred at age 9 years for severe MR.
    Case 16 (DD1049):
    mos46,XY/47,XY,+mar de novo (60%).
    Ascertained at amniocentesis and the baby is normal at 6 months of age.
    Case 17 (DD1316):
    47,XY,+dic(15)(pter->cen::cen->p11)mat.
    Ascertained at amniocentesis and carriers are normal.
    Case 7 (DD1303):
    mos46,XX/47,XX,+psudic(15)de novo.
    At age of 15 years referred with the diagnosis of pycnodysostosis.
    Case 9 (DD1252):
    47,XX,+mar pat.
    Ascertained at amniocentesis and carriers are normal.
    Aberration: Dicentric chromosome
    Chromosomal Aneuploidy: 15q+
    No band
  • Dupont J-M, Le Tessier D, Rabineau D, Cuisset L, Vasseur C, Jeanpierre M, Delpech M, Pinton F, Ponsot G, Denavit M-F.: Unexpected Angelman syndrome molecular defect in a girl displaying clinical features of Prader-Willi syndrome. J. Med. Genet. 36:652-654, 1999. [PMC free article: PMC1762962] [PubMed: 10465123]
    Patient was 5 years old.
    mos47,XX,+inv dup(15)/48,XX,+inv dup(15),+inv dup(15)
  • Eggerman K, Mau U A, Bujdoso G, Koltai E, Engels H, Schubert R, Eggerman T, Raff R, Schwanitz G.: Supernumerary marker chromosomes derived from chromosome 15: analysis of 32 new cases. Clin. Genet. 62:89-93, 2002. [PubMed: 12123494]
    r(15)(p11.2q13).
    32 SMC were studied. 17 were detected prenatally. Additional euchromatin was present in 12 marker chromosomes, the remainder (n=20) constituted heterochromatic material with breakpoints in 15q11.1; and 19 of these were phenotypically normal. One patient with familial SMC(15) had a complex phenotype. Six het SMC(15) were infertile males. Carriers of larger euchromatic material had serious phenotypic consequneces: 3 pregnancies were terminated, a fourth resulted in intrauterine death. Y SMC were maternal and 5 were paternal in origin.
    Aberration: SMC
    Index Terms: Smal supernumerary marker chromosomes (SMC)
  • Faed M J W, Robertson J, Field M A S, Mellon J P: A chromosome survey of a hospital for the mentally subnormal. Clin. Genet. 16:191-204, 1979. [PubMed: 158447]
    Case 17 in this report.
    45,XY,-15,-21,+t(15q21q).
    Aberration: Robertsonian translocations
    No band
  • Fantes J A, Mewborn S K, Lese C M, Hedrick J, Brown R L, Dyomin V, Chaganti R S K, Christian S L, Ledbetter D H.: Organisation of the pericentromeric region of chromosome 15: at least four partial gene copies are amplified in patients with a proximal duplication of 15q. J. Med. Genet. 39:170-177, 2002. [PMC free article: PMC1735052] [PubMed: 11897815]
    Aberration: MA,DU
  • Freeman S B, May K M, Pettay D, Fernhoff P M, Hassold T J: "Paternal uniparental disomy in a child with a balanced 15;15 translocation and Angelman syndrome." AJMG 45:625-630, 1993. [PubMed: 8456836]
    45,XY,i(15q).
    Patient was evaluated at the age of 35 months and had characteristics of the AS.
    Aberration: Isochromosome
    Index Terms: Prader-Willi syndrome
    No band
  • Fridman C, Santos M, Ferrari I, Koiffmann C P.: A further Angelman syndrome patient with UPD15 due to paternal meiosis II nondisjunction. Clin. Genet. 56:86-87, 1999. [PubMed: 10733242]
    Gyftodimou J, Karadima G, Pandelia E, Vassilopoulos D, Petersen M B.: Angelman syndrome with uniparental disomy due to paternal meiosis II nondisjunction. Clin. Genet. 55:483-486, 1999. [PubMed: 10450868]
    46,XX,pUPD(15).
    Patient was 6 years old with overgrowth, had frequent but only provoked laughter, was mildly ataxic with limb hypertonia, and had no intelligible speech.
    Aberration: Uniparental disomy
    MIM#: 105830
    Index Terms: Angelman syndrome
  • Fridman C, Varela M C, Kok F, Diament A, Koiffmann C P.: Paternal UPD15: further genetic and clinical studies in four Angelman syndrome patients. AJMG 92:322-327, 2000. [PubMed: 10861661]
    Aberration: Uniparental disomy
  • Fridman C, Varela M C, Nicholls R D, Koiffmann C P.: Unusual clinical features in an Angelman syndrome patient with uniparental disomy due to a translocation 15q15q. Clin. Genet. 54:303-308, 1998. [PubMed: 9831341]
    45,XY,t(15q15q),upd(15)pat.
    The patient also had hyperphagia and obesity with overgrowth.
    Aberration: TR,UPD
    MIM#: 105830
  • Friedrich U, Nielsen J, Sehested J: A family with 15-22 translocation. Hereditas 72:172-174, 1972. [PubMed: 4680646]
    45,XX,t(15q22q).,45,XX and XY,der t(15q22q)mat.
    Aberration: Robertsonian translocations
    No band
  • Gedschold J, Bannier E, Weise W, Sandig K R, Degen B, Siegemund G, Metzke H, Muller R: Das familiare vorkommen einer 15/21-translokalisation in vier generationen. Z. Klin. Med. 43:497-499, 1988.
    46,XX,-15,+der t(15q21q)mat.,45,XX or XY,t(15q21q)mat or pat.
    A large family is reported with couple of Down syndrome offspring.
    Aberration: Robertsonian translocations
    Chromosomal Aneuploidy: 21+
    Index Terms: Down syndrome
    No band
  • Gilgenkrantz S, Groupe de Cytogeneticiens Francais: Robertsonian translocations and abnormal phenotypes. Ann. Genet. 32:5-9, 1989. [PubMed: 2665630]
    t(15q22q).
    Data on 3 cases are reviewed.
    Aberration: Robertsonian translocations
    No band
  • Gillessen-Kaesbach G, Albrecht B, Passarge E, Horsthemke B.: Further patient with Angelman syndrome due to paternal disomy of chromosome 15 and a milder phenotype. AJMG 56:328-329, 1995. [PubMed: 7778602]
    Aberration: Uniparental disomy
    MIM#: 105830
    Index Terms: Uniparental paternal disomy, Angelman syndrome
    No band
  • Gravholt C H, Friedrich U.: Molecular cytogenetic study of supernumerary marker chromosomes in an unselected group of children. AJMG 56:106-111, 1995. [PubMed: 7747772]
    Three cases: 348, 6013, and 45604:
    mos46,XX/47,XX,+mar; 47,XX,+mar; and mos46,XY/47,XY,+mar respectively.
    Normal appearance in two cases and the third (6013) died 3 1/2 hours after birth but no dysmorphic features were present.
    No band
  • Hamabe J I, Fukushima Y, Harada N, Abe K, Matsuo N, Nagai T, Yoshioka A, Tonoki H, Tsukino R, Niikawa N: Molecular study of the Prader-Willi syndrome: deletion, RFLP, and phenotype analyses of 50 patients. AJMG 41:54-63, 1991. [PubMed: 1683159]
    Sinnett D, Wagstaff J, Glatt K, Woolf E, Kirkness E J, Lalande M: High-resolution mapping of the gamma-aminobutyric acid receptor subunit beta3 and alpha5 gene cluster on chromosome 15q11-q13, and localization of breakpoints in two Angelman syndrome patients. AJHG 52:1216-1229, 1993. [PMC free article: PMC1682269] [PubMed: 8389098]
    50 patients were examined.
    46,del(15)(pter->q11.1::q12->qter).,mos45,X,del(15)(pter->q11.1::q12->qter)/,46,X,del(15)(pter->q11.1::q12->qter),+mar.,45,t(15;15)(qter->p11.1::q12->qter).,47,del(15)(pter->q11.1::q12->qter),+inv dup(15)(pter->q11.1::q11.1->qter).
    The AS patient DS176 was found to have the breakpoint within the GABRB3 region.
    Aberration: ID,TR
    Chromosomal Aneuploidy: 15q-
    Index Terms: Angelman syndrome
    No band
  • Hawkey C J, Smithies A: The Prader-Willi syndrome with a 15/15 translocation. Case report and review of the literature. J. Med. Genet. 13:152-157, 1976. [PMC free article: PMC1013377] [PubMed: 933113]
    45,XY,t(15q15q).
    Parental karyotypes were normal.
    Aberration: TR,IC
    MIM#: 176270
    Index Terms: Prader-Willi ... Critical Region (PWCR)
    No band
  • Hindkjaer J, Brandt C A, Stromkjaer H, Koch J, Kolvraa S, Bolund L.: Primed IN Situ labelling (PRINS) as a rational procedure for identification of marker chromosomes using a panel of primers differentially tagging the human chromosomes. Clin. Genet. 50:437-441, 1997. [PubMed: 9147869]
    47,XX,+der(15)
    A prenatal case.
    Index Terms: PRINS
    No band
  • Horsthemke B, Nazlican H, Husing J, Klein-Hitpab, L, Claussen U, Michel S, Lich C, Gillessen-Kaesbach G, Buiting K. : Somatic mosaicism for maternal uniparental disomy 15 in a girl with Prader-Willi syndrome: confirmation by cell cloning and identification of candidate downstream genes. Hum. Mol. Genet. 12:2723-2732, 2003. [PubMed: 12944418]
    Nazlican H, Zeschnigk M, Claussen U, Michel S, Boehringer S, Gillessen-Kaesbach G, Buiting K, Horsthemke B.: Somatic mosaicism in patients with Angelman syndrome and an imprinting defect. Hum. Mol. Genet. 13:2547-2555, 2004. [PubMed: 15385437]
    It is suggested that patients with a higher percentage of normally methylated cells tend to have milder clinical symptoms than patients with a lower percentage.
    Blood=mos46,XX,9qh+,15ps+[62]/46,XX,9qh+,15ps+,upd(15)mat.,Father=46,XY,9qh+.,Mother=46,XX,15ps+.
    The patient was 2 years old.
    Aberration: Uniparental disomy
    MIM#: 176270
  • Same entry as in 47,XXX and 47,XXY (Butler et al, 1997).
  • 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 Nos. K38-204-67 and K142-384-67 in this report.
    45,XY,t(15q22q).
    M. R. C. Registry No. K22-1-66 in this report.
    46,XX,-15,+t(15q21q).
    Aberration: Robertsonian translocations
    No band
  • Lazarus A L, Moore K E, Spinner N B: Recurrent neuroleptic malignant syndrome associated with inv dup (15) and mental retardation. Clin. Genet. 39:65-67, 1991. [PubMed: 1997219]
    47,XY,+inv dup (15).
    Aberration: Inversion pericentric
    No band
  • Liehr T, Ziegler M, Starke H, Heller A, Kuechler A, Kittner G, Beensen V, Seidel J, Habler H, Musebeck J, Clausen U.: Conspicuous GTG-banding results of the centromere-near region can be caused by alphoid DNA-heteromorphism. Clin. Genet. 64:166-167, 2003. [PubMed: 12859415]
    Liehr T.: Personal communication, 2003.
    Case 1:
    46,XY,15q+.ish var or dup(15)(cep 15-D15Z1++?)
    The newborn was being evaluated because of clinical signs of CATCH22 and negative results of FISH analysis for a microdeletion of 22q11.2.
    Family stuides were not done as per Dr. T. Liehr, July 21.
    Aberration: MA,DU
    Index Terms: Alphoid DNA heteromorphism
  • Lucas M: Translocation between both members of chromosome pair number 15 causing recurrent abortions. Ann. Hum. Genet. 32:347-352, 1969. [PubMed: 5822322]
    45,XX,t(15q15q).,46,XY,-15,+der(15)t(15q15q)mat.,Chromosome identification by autoradiography.
    Aberration: Robertsonian translocations
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    No band
  • Maeda T, Ohno M, Takada M, Matsunobu A, Arai M: Postzygotic D/D translocation homozygosity associated with recurrent abortions. AJMG 15:389-392, 1983. [PubMed: 6881208]
    Case 2.
    45,XX,t(15q15q).
    Aberration: Robertsonian translocations
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    No band
  • Maraschio P, Zuffardi O, Bernardi F, Bozzola M, De Paoli C, Fonatsch C, Flatz S D, Ghersini L, Gimelli G, Loi M, Lorini R, Peretti D, Poloni L, Tonetti D, Vanni R, Zamboni G: Preferential maternal derivative in inv dup(15). Hum. Genet. 57:345-350, 1981. [PubMed: 7286973]
    (15pter->15q12::15q12->15pter or 15pter->15q11::15q13->15pter).,All eight cases have an extra chromosome which is thought to have been a derived 15.
    No band
  • Martin R H, Ko E, Hildebrand K: "Analysis of sperm chromosome complements from a man heterozygous for a Robertsonian translocation 45,XY,t(15q;22q)." AJMG 43:855-857, 1992. [PubMed: 1642275]
    45,XY,der t(15q22q)mat.
    The man was ascertained because his sister, also a carrier, had multiple miscarriages.
    Aberration: Robertsonian translocations
    Index Terms: Sperm ... chromosome complement
    No band
  • Mehes K, Bajnoczky K, Buhler E M, Kosztolanyi G: "Late separating D/D fusions in subjects with ""balanced"" translocation." Ann. Genet. 34:19-21, 1991. [PubMed: 1952785]
    One patient with Robertsonian translocation was studied.
    t(15q15q).
    The centromere separation index studies indicated that these chromosomes separate late in mitosis.
    Aberration: Robertsonian translocations
    Index Terms: Centromere ... separation index
    No band
  • Neri G, Ricci R, Pelino A, Bova R, Tedeschi B, Serra A: "A boy with ring chromosome 15 derived from a t(15q;15q) Robertsonian translocation in the mother: Cytogenetic and biochemical findings." AJMG 14:307-314, 1983. [PubMed: 6220608]
    Neri G, Serra A, Campana M, Tedeschi B: Reproductive risks for translocation carriers: cytogenetic study and analysis of pregnancy outcome in 58 families. AJMG 16:535-561, 1983. [PubMed: 6660248]
    Patient was 10 years old.
    Sibship G.A. in this report.
    45,XX,t(15q15q).,46,XY,-15,+r(15q15q)(15q13 -> cen -> 15q26)mat.
    Also see more studies on this case and reported by Robinson et al (1994) under 140000.
    Aberration: RI,IC
    No band
  • Nicholls R D, Pai G S, Gottlieb W, Cantu E S: Paternal uniparental disomy of chromosome 15 in a child with Angelman syndrome. Ann. Neurol. 32:512-518, 1992. [PubMed: 1360787]
    Paternal uniparental disomy was in a patient with AS.
    MIM#: 105830
    Index Terms: Paternal uniparental disomy,Angelman syndrome
    No band
  • Niikawa N, Ishikiriyama S: Clinical and cytogenetic studies of the Prader-Willi syndrome: evidence of phenotype-karyotype correlation. Hum. Genet. 69:22-27, 1985. [PubMed: 3855404]
    Saitoh S, Mutirangura A, Kuwano A, Ledbetter D H, Niikawa N: Isochromosome 15q of maternal origin in two Prader-Willi syndrome patients previously diagnosed erroneously as cytogenetic deletions. AJMG 50:64-67, 1994. [PubMed: 7909198]
    Patient 1:
    45,XY,i(15)(qter-cen-qter)mat.,The deleted segment common to PWS patients was 15q11.2.
    Patient 2:
    45,XX,i(15)(qter-cen-qter)mat.
    Aberration: Isochromosome
    MIM#: 176270
    Index Terms: Prader-Willi ... Critical Region (PWCR)
    No band
  • Olander E, Stamberg J, Steinberg L, Wilfsberg E A.: Third Prader-Willi syndrome phenotype due to maternal uniparental disomy 15 with mosaic trisomy 15. AJMG 93:215-218, 2000. [PubMed: 10925385]
    Patient was 21 months old.
    Blood (2 days after birth)=46,XY[21 cells].,Skin fibroblast culture=mos47,XY,+15[5]/46,XY,upd(15)mat[62].,Blood (7 months)=46,XY[100 cells].
    It is proposed that PWS patients with maternal UPD have a slightly milder phenotype with better cognitive function.
    Aberration: Uniparental disomy
    MIM#: 176270
    No band
  • Plattner R, Heerema N, Yurov Y B, Palmer C G: Efficient identification of marker chromosomes in 27 patients by stepwise hybridization with alpha-satellite DNA probes. Hum. Genet. 91:131-140, 1993. [PubMed: 8462972]
    Cases 1 to 7, 12, 13, and 22.
    47,XX or XY,+15 (small marker like).
    No band
  • Podugolnikova O A, Batienko G S: Cytogenetic study of a family with an aberrant inv(15p+q-) chromosome inherited through five generations. Genetika 8:129-137, 1972. [PubMed: 4412695]
    46,XX,inv(15)(pq).,46,XX and XY,inv(15)(pq)mat.,46,XX,inv(15)(pq)mat,inv(15)(pq)?pat.
    Patient S.A. in this report.
    46,XY,inv(15)(pq)mat.
    Aberration: Inversion pericentric
    No band
  • Poyatos D, Guitart M, Gabau E, Brun C, Mila M, Vaquerizo J, Coll M D.: Severe phenotype in Angelman syndrome resulting from paternal isochromosome 15. J. Med. Genet. 39:e4-e4., 2002. [PMC free article: PMC1735026] [PubMed: 11836373]
    Patient 1 was born on October 21, 1988. Patient 2 on November 4, 1991.
    45,XY,i(15q15q)de novo.upd(15)pat.
    Aberration: Isochromosome
    MIM#: 105830
    Index Terms: Angelman syndrome
  • Prasad C, Wagstaff J.: Genotype and phenotype in Angelman syndrome caused by paternal UPD 15. AJMG 70:328-329, 1997. [PubMed: 9188675]
    Patient was 10 years old.
    Methylation analysis of D15S63 showed a paternal only pattern. Number of other markers were not found in the patient but present in the mother.
    Aberration: Uniparental disomy
    MIM#: 105830
    Index Terms: Angelman Syndrome upd(15)pat
  • Rauch A, Pfeiffer R A, Trautmann U, Liehr T, Rott H D, Ulmer R: A study of ten small supernumerary (marker) chromosomes identified by flourescence in situ hybridization (FISH). Clin. Genet. 42:84-90, 1992. [PubMed: 1424236]
    Case 1, S 88.
    47,XX,+mar(15).
    Prenatally diagnosed but the newborn is normal.
    Case 2, NN 891218.
    mos46,XY/47,XY,+idic(15).
    The patient had MCA/MR and age 2.4 years. Referred because of tetralogy of fallot, Blalock-Taussig correction not successful.
    Index Terms: Tetralogy of Fallot
    No band
  • Roberts S, Maggouta F, Thompson R, Price S, Thomas S.: A patient with a supernumerary marker chromosome (15), Angelman syndrome, and uniparental disomy resulting from paternal meiosis II non-disjunction. J. Med. genet. 39: e9-e9, 2002. [PMC free article: PMC1735048] [PubMed: 11836378]
    47,XY,SMC(15),upd(15)pat.
    The patient was 15 years old. Further studies were initiated as part of a project concerning Prader Willi Angelman syndrome critical region amplification.
    Aberration: Uniparental disomy
    MIM#: 105830
    Index Terms: Angelman syndrome, SMC
  • Robinson W P, Bernasconi F, Mutirangura A, Ledbetter D H, Langlois S, Malcolm S, Morris M A, Schinzel A A: Nondisjunction of chromosome 15: origin and recombination. AJHG 53:740-751, 1993. [PMC free article: PMC1682425] [PubMed: 8352279]
    Robinson W P, Kuchinka B D, Bernasconi F, Petersen M B, Schulze A, Brondum-Nielsen K, Christian S L, Ledbetter D H, Schinzel A A, Horsthemke B, Schuffenhauer S, Michaelis R C, Langlois S, Hassold T J.: Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombination. Hum. Mol. genet. 7:1011-1019, 1998. [PubMed: 9580665]
    115 cases of UPD, ascertained through PWS) and 13 cases of trisomy 15 were studied.
    97 are due to MI, 19 to MII and 12 are due to mitotic errors.
    Aberration: Uniparental disomy
    Index Terms: UPD
    No band
  • Robinson W P, Christian S L, Kuchinka B D, Pe+¦aherrera M S, Das S, Schuffenhauer S, Malcolm S, Schinzel A A, Hassold T J, Ledbetter D H.: Somatic segregation errors predominantly contribute to the gain or loss of a paternal chromosome leading to uniparental disomy for chromsome 15. Clin. Genet. 57:349-358, 2000. [PubMed: 10852369]
    Robinson W P, Langlois S, Schuffenhauer S, Horsthemke B, Michaelis R C, Christian S, Ledbetter D H, Schinzel A.: Cytogenetic and age-dependent risk factors associated with uniparental disomy 15. Prenat. Diag. 16:837-844, 1996. [PubMed: 8905898]
    For women greater than or equal to 40 years of age, the risk for UPD(15) is approximately 1/3400 livebirths.
    Aberration: Uniparental disomy
    No band
  • Rogan P K, Seip J R, White L M, Wenger S L, Steele M W, Sperling M A, Menon R, Knoll J H M.: Relaxation of imprinting in Prader-Willi syndrome. Hum. Genet. 103:694-701, 1998. [PubMed: 9921905]
    Two patients, PWS12 and PWS96-019, were studied.
    upd(15)mat
    Maternal imprint was retained at SNRPN.
    Aberration: Uniparental disomy
    MIM#: 176270
  • Saxon P J, Schultz R A, Stanbridge E J, Friedberg E C: Human chromosome 15 confers partial complementation of phenotypes to Xeroderma pigmentosum group F cells. AJHG 44:474-485, 1989. [PMC free article: PMC1715561] [PubMed: 2929593]
    Index Terms: Xeroderma pigmentosum
    No band
  • Schinzel A, Niedrist D.: Chromosome imbalances associated with epilepsy. AJMG 106 (Seminars in Med. Genet. 2):119-124, 2001. [PubMed: 11579431]
    Torrisi L, Sangiorgi E, Russo L, Gurrieri F.: Rearrangements of chromosome 15 in epilepsy. AJMG 106 (Seminars in Med. Genet. 2):125-128, 2001. [PubMed: 11579432]
    These two papers give a review of some of the chromosomal anomalies vi-a-vis epilepsy.
    Index Terms: Epilepsy
    No band
  • Schmid M, Schindler D, Haaf T: Structure, origin and effects of a supernumerary marker chromosome 15. Clin. Genet. 30:63-71, 1986. [PubMed: 3463440]
    No band
  • Schmutz S M, Pinno E: Morphology alone does not make an isochromosome. Hum. Genet. 72:253-255, 1986. [PubMed: 3957349]
    Patient had minor dysmorphic features and developmental delay.
    46,XX,-15,+i(15p),+i(15q).
    Aberration: Isochromosome
    No band
  • Schwanitz G, Zerres K, Gembruch U, Bald R, Hansmann M: Rate of chromosomal aberrations in prenatally detected hydrops fetalis and hygroma colli. Hum. Genet. 84:81-82, 1989. [PubMed: 2606481]
    47,XY,+der(15),t(15;17)pat.
    A case with non-immune hydrops fetalis without hygroma colli.
    Aberration: Simple translocation
    Index Terms: Hygroma colli,Hydrops
    No band
  • Shaffer L G, Jackson-Cook C K, Stasiowski B A, Spence J E, Brown J A: Parental origin determination in thiry de novo Robertsonian translocations. AJMG 43:957-963, 1992. [PubMed: 1357969]
    rob(15q21q).
    More maternally derived de novo translocations (26/30) were found.
    Aberration: Robertsonian translocations
    No band
  • Smith A, Loughnan G, Steinbeck K.: Death in adults with Prader-Willi syndrome may be correlated with maternal uniparental disomy. J. Med. Genet. 40:e63, 2003. [PMC free article: PMC1735445] [PubMed: 12746417]
    Smith A, Robson L, Neumann A, Mulcahy M T, Chabros V, Deng Z M, Woodage T, Trent R J: Fluorescence in-situ hybridisation and molecular studies used in the characterisation of a Robertsonian translocation (13q15q) in Prader-Willi syndrome. Clin. Genet. 43:5-8, 1993. [PubMed: 8462197]
    45,XY,t(13q15q).
    A dicentric translocation chromosome without a deletion involving 15q11-13. There was maternal uniparental disomy for chromosome 15.
    Aberration: Robertsonian translocations
    MIM#: 176270
    Index Terms: Prader-Willi ... Critical Region (PWCR),Uniparental
    No band
  • Smith A, Robson L, Buchholz B.: Normal growth in Angelman syndrome due to paternal UPD. Clin. Genet. 53:223-225, 1998. [PubMed: 9630080]
    2 patients are presented: a female aged 30 years and another, a male aged 4 1/2 years.
    Aberration: Uniparental disomy
    MIM#: 105830
  • Sullivan B A, Jenkins L S, Karson E M, Leana-Cox J, Schwartz S.: Evidence for structural heterogeneity from molecular cytogenetic analysis of dicentric Robertsonian translocations. AJHG 59:167-175, 1996. [PMC free article: PMC1915107] [PubMed: 8659523]
    Wolff D J, Schwartz S: Characterization of Robertsonian translocations by using fluorescence in situ hybridization. AJHG 50:174-181, 1992. [PMC free article: PMC1682527] [PubMed: 1729886]
    t(15q15q).
    Aberration: Robertsonian translocations
    No band
  • Surh L C, Wang H, Hunter A G W: Deletion and uniparental disomy involving the same maternal chromosome 15. NEJM 330:572-573, 1994. [PubMed: 8302329]
    More work is planned on this interesting family to identify the structural rearrangements.
    Aberration: Uniparental disomy
    Index Terms: UPD
    No band
  • Tonk V, Schultz R A, Christian S L, Kubota T, Ledbetter D H, Wilson G N.: Robertsonian (15q;15q) translocation in a child with Angelman syndrome: evidence of uniparental disomy. AJMG 66:426-428, 1996. [PubMed: 8989460]
    45,XY,t(15q;15q)de novo,upd(15)pat
    The 2 1/2 year old patient was evaluated beacuse of developmental dealy and microcephaly.
    13 markers were used for upd studies.
    Aberration: Robertsonian translocations
    MIM#: 105830
    Index Terms: Angelman syndrome,UPD
    No band
  • Wachtler F, Musil R: On the structure and polymorphism of the human chromosome No. 15. Hum. Genet. 56:115-118, 1980. [PubMed: 6162775]
    No band
  • Wang S G, Ren G Q, Xue H, Shen Q Y, Song L L, Yuan P: Cytogenetic study of 1633 cases. Chin. Med. J 101:231-236, 1988. [PubMed: 3138079]
    46,XY,t(15;18)(15p18p;15q18q).
    Aberration: Whole-arm translocations
    No band
  • Wassman E R, Cheyovich D L, Nakahara Y: """Possibly"" de novo translocations: prenatal risk counseling." Am. J. Obstet. Gynecol. 161:698-702, 1989. [PubMed: 2476932]
    t(15;17).
    Elective abortion because of trisomy 21.
    t(15;19).
    Normal newborn 6lb 13 oz male.
    t(15;20).
    Normal female, followed till 8 years.
    Aberration: Simple translocation
    No band
  • Wisniewski L P, Witt M E, Ginsberg-Fellner F, Wilmer J, Desnick R J: Prader-Willi syndrome and a bisatellited derivative of chromosome 15. Clin. Genet. 18:42-47, 1980. [PubMed: 7418253]
    Patient was 17 years old. The extra chromosome is de novo.
    47,XY,+inv dup(15)(pter->q11 or 12::p11 or q11 or 12->pter).
    Index Terms: Prader-Willi ... Critical Region (PWCR),Willi-Prader syndrome
    No band
  • Woodage T, Prasad M, Dixon J W, Selby R E, Romain D R, Columbano-Green L M, Graham D, Rogan P, Seip J R, Smith A, Trent R J: Bloom syndrome and maternal uniparental disomy for chromosome 15. AJHG 55: 74-80, 1994. [PMC free article: PMC1918231] [PubMed: 7912890]
    MIM#: 210900
    Index Terms: Uniparental disomy,Bloom syndrome
    No band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106358
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