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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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  • Barber J C K, Reed C J, Dahoun S P, Joyce C A.: Amplification of a pseudogene cassette underlies euchromatic variation of 16p at the cytogenetic level. Hum. Genet. 104:211-218, 1999. [PubMed: 10323244]
    Paoloni-Giacobino A, Morris M A, Dahoun S P.: Prenatal supernumerary r(16)chromosome characterized by multiprobe FISH with normal pregnancy outcome. Prenat. Diag. 18:751-752, 1998. [PubMed: 9706660]
    Case ascertained beacuse of advanced maternal age of 40 years.
    47,XY,+r(16)de novo[50%]/46,XY[50%].,Post natal blood=mos47,XY,+r(16)[75%] and skin=47,XY,r(16)[30%].,Case 4 in Barber et al=47,XY,+r(16)de novo.ish dic r(16)(wcp16+, cos11+, cos13+, c329B6+, D16Z2++, D16Z3+).
    The 10 month old baby boy is healthy and devoid of developmental abnormalities.
    The r(16) was identified by WCP and D16Z3.
    Aberration: Ring chromosome
    Chromosomal Aneuploidy: 16p+ and q+
  • Callen D F, Eyre H J, Ringenbergs M L, Freemantle C J, Woodroffe P, Haan E A: Chromosomal origin of small ring marker chromosomes in man: characterization by molecular genetics. AJHG 48:769-782, 1991. [PMC free article: PMC1682952] [PubMed: 2014800]
    Case 8.
    Aberration: Ring chromosome
    No band
  • Chan Y, Silverman N, Jackson L, Wapner R, Wallerstein R.: Maternal uniparental disomy of chromosome 16 and body stalk anomaly. AJMG 94:284-286, 2000. [PubMed: 11038440]
    Eggermann T, Zerres K, Eggermann K, Moore G, Wollmann H A.: Uniparental disomy: clinical indications for testing in growth retardation. Europ. J. Pediat. 161:305-312, 2002. [PubMed: 12029448]
    Kotzot D.: Review and meta-analysis of systematic searches for uniparental disomy (UPD) other than UPD 15. AJMG 111:366-375, 2002. [PubMed: 12210294]
    Ultrasonography detected fetal anomalies at 23 weeks. Pregnancy terminated.
    Aberration: Uniparental disomy
    Index Terms: Body stalk anomaly
    No band
  • Craig-Holmes A P, Moore F B, Shaw M W: Polymorphism of human C-band heterochromatin. I. Frequency of variants. AJHG 25:181-192, 1974. [PMC free article: PMC1762502] [PubMed: 4120239]
    Aberration: Marker chromosome
    No band
  • Crolla J A, Dennis N R, Jacobs P A: A non-isotopic in situ hybridisation study of the chromosomal origin of 15 supernumerary marker chromosomes in man. J. Med. Genet. 29:699-703, 1992. [PMC free article: PMC1016126] [PubMed: 1433228]
    Case 9.
    mos46,XY/47,XY,+mar(16)de novo.
    Attempt has been made to correlate the physical findings with the chromosomal abnormality.
    No band
  • Donald L J, Wang H S, Hamerton J L: Human phosphoglycolate phosphatase is coded by a gene on chromosome 16. Cytogenet. Cell Genet. 27:184-186, 1980. [PubMed: 6249546]
    MIM#: 172280
    No band
  • Felbor U, Rutschow D, Haaf T, Schmid M.: Centromeric association of chromosome 16- and 18-derived microchromosomes. Hum. Genet. DOI=10.1007/s00439-002-0744-0; 111:16-25, 2002. [PubMed: 12136231]
    The patient was a healthy 24-year-old female.
    47,XX,+mar(16)[88%] in lymphocytes..
    Index Terms: Microchromosomes
  • Greig G M, England S B, Bedford H M, Willard H F: Chromosome-specific alpha satellite DNA from the centromere of human chromosome 16. AJHG 45:862-872, 1989. [PMC free article: PMC1683467] [PubMed: 2573999]
    The total D16Z2 spans about 1400-2000 kb of centromeric DNA.
    Aberration: Marker chromosome
    Index Terms: Alpha satellite DNA
    No band
  • Hastings R J, Nisbet D L, Waters K, Spencer T, Chitty L S.: Prenatal detection of extra structurally abnormal chromosomes (ESACs): new cases and a review of the literature. Prenat. Diag. 19:436-445, 1999. [PubMed: 10360512]
    Case 16:
    47,XY,+mar[21]/46,XY[14].ish der(16)(D16Z1+)mat
    Case ascertained because of abnormal serum biochemistry in a 37 year old woman. Normal development at 14 months.
    Case 9:
    47,XX,+mar[36]/46,XX,[19].ish der(16)(D16Z1+)de novo
    Normal post-mortem after termination of pregnancy. Case ascertained because of abnormal serum biochemistry in a 35 year old mother.
    Index Terms: Extra structurally abnormal chromosomes (ESACs)
  • Heng H H Q, Ye C J, Yang F, Ebrahim S, Liu G, Bremer S W, Thomas C M, Ye J, Chen T J, Tuck-Muller C, Yu J W, Krawetz S A, Johnson A.: Analysis of marker or complex chromosomal rearrangements present in pre- and post-natal karyotypes utilizing a combination of G-banding, spectral karyotyping and fluorescence in situ hybridization. Clin. Genet. 63:358-367, 2003. [PubMed: 12752567]
  • Hengstschlager M, Bettelheim D, Drahonsky R, Deutinger J, Bernaschek G.: Prenatal diagnosis of a de novo supernumerary marker derived from chromosome 16. Prenat. Diag. 21:477-480, 2001. [PubMed: 11438953]
    The mother was 40 years old.
    47,XX,+mar.ish der(16)de novo[2 clones].,Fetal fibroblasts=47,XX,+mar.ish der(16)[21%].,No marker in cord blood cells.
    Ultrasound examination during the 19th week did not reveal any anomalies. Postmortem analyses revealed a normal phenotype.
    Chromosomal Aneuploidy: 16+
  • Hyland V J, Fernandez K E W, Callen D F, MacKinnon R N, Baker E, Friend K, Sutherland G R: Assignment of anonymous DNA probes to specific intervals of human chromosomes 16 and X. Hum. Genet. 83:61-66, 1989. [PubMed: 2570019]
    Hyland V J, Grist S, Callen D F, Sutherland G R: Anonymous DNA probes to human chromosome 16 derived from a flow-purified library. AJHG 42:373-379, 1988. [PMC free article: PMC1715264] [PubMed: 3422544]
    No band
  • Jeremiah S J, Povey S, Burley M W, Kielty C, Lee M, Spowart G, Corney G, Cook P J L: Mapping studies on human mitochondrial glutamate oxaloacetate transaminase. Ann. Hum. Genet. 46:145-152, 1982. [PubMed: 7114792]
    MIM#: 138150
    No band
  • Kohlhase J, Janssen B, Weidenauer K, Harms K, Bartels I.: First confirmed case with paternal uniparental disomy of chromosome 16. AJMG 91:190-191, 2000. [PubMed: 10756340]
    Amniocentesis at 21 weeks=46,XX[30] and mos47,XX,+16[10]/46,XX[3].,Amniocentesis at 23 weeks=46,XX in four cultures.,Placentacentesis at 23 weeks=47,XX,+16[15].
    MSAFP results indicated higher risk and prenatal diagnosis was undertaken. Development is within normal limits at 13 months.
    Aberration: Uniparental disomy
  • Kondo Y, Tsukishiro S, Tanemura M, Sugiura-Ogasawara M, Suzumori K, Sonta S-i: Maternal uniparental disomy of chromosome 16 in a case of spontaneous abortion. J. Hum. Genet. DOI=10.1007/s10038-004-0128-5; 49:177-181, 2004. [PubMed: 14997362]
    Case 18=46,XX,upd(16)mat.
    The results show that the fetus had maternal isodisomy and heterodisomy of chromosome 16, originating from a maternal, meiosis I non-disjunction of dyad 16 that accompanied a crossover at near the middle point of the long arm.
    52 miscarriages of first-time pregnancies at weeks 7-9 were analyzed. 27 (51.9%) had chromosomal anomalies:47,XX or XY,+16 and 45,X in five cases; 70,XXY,+22; 48,XX,+16,+22 in one case.
    Aberration: Uniparental disomy
    Index Terms: Spontaneous abortion & UPD(16)mat
  • 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. 25 in this report.
    46,XX,-21,+t(16p21p). This karyotype interpretation is difficult to follow.
    Aberration: Simple translocation
    Index Terms: Perinatal death
    No band
  • Martin J, Han C, Gordon L A, Terry A, Prabhakar S, She X, Xie G, Heelstein U, Chan Y M, Altherr M, Couronne O, Aerts A, Bajorek E, Black S, Blumer H, Branscomb E, Brown N C, Bruno W J, Buckingham J M, Callen D F, Campbell C S, Campbell M L, Campbell E W, Caoile C, Challacombe J F, Chasteen L A, Chertikov O, Chi H C, Christensen M, Clark L M, Cohn J D, Denys M, Detter J C, Dickson M, Dimitrijevic-Bussod M, Escobar J, Fawcett J J, Flowers D, Fotopulos D, Glavina T, Gomez M, Gonazles E, Goodstein D, Goodwin L A, Grady D L, Grogoriev I, Groza M, Hammon N, Hawkins T, Haydu L, Hildebrand C E, Huang W, Israni S, Jett J, Jewett P B, Kadner K, Kimball H, Kobayashi A, Krawczyk M-C, Leyba T, Longmire J L, Lopez F, Lou Y, Lowry S, Ludeman T, Manohar C F, Mark G A, McMurray K L, Meincke L J, Morgan J, Moyzis R K, Mundt M O, Munk A C, Nandkeshwar R D, Pitluck S, Pollard M, Predki P, Parson-Quintana B, Ramirez L, Rash S, Retterer J, Ricke D O, Robinson D L, Rodriguez A, Salamov A, Saunders E H, Scott D, Shough T, Stallings R L, Stalvey M, Sutherland R D, Tapia R, Tesmer J G, Thayer N, Thompson L S, Tice H, Torney D C, Tran-Gyamfi M, Tsai M, Ulanovsky L E, Ustaszewska A, Vo N, White P S, Williams A L, Wills P L, Wu J-R, Wu K, Yang J, Dejong P, Bruce D, Doggett N A, Deaven L, Schmutz J, Grimwood J, Richardson P, Rokhsar D S, Eichler E E, Gilna P, Lucas S M, Myers R M, Rubin E M, Pennacchio L A. : The sequence and analysis of duplication-rich human chromosome 16. Nature 432:988-994, 2004. [PubMed: 15616553]
    Index Terms: DNA sequence chromosome 16
  • Morin G B: Recognition of a chromosome truncation site associated with alpha-thalassaemia by human telomerase. Nature 353:454-456, 1991. [PubMed: 1896089]
    "A case of human alpha-thalassaemia is caused by a truncation of chromosome 16 that has been healed by the addition of telomeric repeats (TTAGGG)n". It has been shown that human telomerase correctly recognizes the chromosome 16 breakpoint sequence and adds (TTAGGG)n repeats.
    Index Terms: Telomer
    No band
  • O''Riordan S, Greenough A, Moore G E, Bennett P, Nicolaides K H.: Case report: uniparental disomy 16 in association with congenital heart disease. Prenat. Diag. 16:963-965, 1996. [PubMed: 8938071]
    CVS:47,XX,+16 (100% in 18 cells by direct and culture preparations); AF and Fetal blood:46,XX,upd(16)mat.
    Infant had IUGR and secundum atrial septal defect.
    Aberration: Uniparental disomy
    Index Terms: UPD
    No band
  • Pellestor F, Girardet A, Lefort G, Andreo B, Charlieu J P.: Use of the primed in situ labelling (PRINS) technique for a rapid detection of chromosomes 13, 16, 18, 21, X and Y. Hum. Genet. 95:12-17, 1995. [PubMed: 7814017]
    Index Terms: PRINS
    No band
  • Sanz R, Anabitarte M A, Querejeta M E, Lorda-Sanchez I, Iba+¦ez M A, Rodr+¡guez de Alba M, Ayuso C, Ramos C.: Rapid identification of a small dicentric supernumerary marker derived from chromosome 16 with a modified FISH technique on amniotic fluid. Prenat. Diag. 20:63-65, 2000. [PubMed: 10701855]
    A 35yo, g3p2, underwent amnicentesis at 16 weeks''gestation due to advanced maternal age.
    AF=46,XX[80%]/47,XX,+mar[20%]-GTG banding.,46,XX[80%]/47,XX,+mar[20%].ish der(16)(D16Z2+,wcp16+,D16Z2+)de novo.,At birth, blood=46,XX[84%]/47,XX,+dic(16)[16%].
    At 9 mo of age, the baby follow-up was normal.
    Aberration: Dicentric chromosome
    Chromosomal Aneuploidy: 16+
  • 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]
    A case with non-immune hydrops fetalis without hygroma colli.
    Aberration: Simple translocation
    Index Terms: Hygroma colli,Hydrops
    No band
  • Sparkes R S, Mohandas T K, Sparkes M C, Passage M B, Shulkin J D: Assignment of the human gene for phosphoglycolate phosphatase to chromosome 16. Hum. Genet. 54:159-161, 1980. [PubMed: 6248449]
    MIM#: 172280
    No band
  • Sutherland G R, Reeders S, Hyland V J, Callen D F, Fratini A, Mulley J C: Molecular genetics of human chromosome 16. J. Med. Genet. 24:451-456, 1987. [PMC free article: PMC1050200] [PubMed: 2443701]
    No band
  • Same entry as in 030000,040000 (Wassman E R et al, 1989).

  • Wattanasirichaigoon D, Promsonthi P, Chuansumrit A, Leopairut J, Yanatatsaneejit P, Rattanatanyong P, Munkongdee T, Fucharoen S, Mutirangura A.: Maternal uniparental disomy of chromosome 16 resulting in hemoglobin Bart''s hydrops fetalis. Clin. Genet. 74: 284-287, 2008. [PubMed: 18564363]
    Aberration: Uniparental disomy
    Index Terms: Bart's hydrops fetalis
  • Woo V, Bridge P J, Bamforth J S.: Maternal uniparental heterodisomy for chromosome 16: case report. AJMG 70:387-390, 1997. [PubMed: 9182779]
    CVS=47,XX,+16(20 colonies).,Amniotic fluid=46,XX(17 colonies).
    Followed upto 3 years of age and growth was within normal limits. Dysmorphic features included mild epicanthic folds, and midfacial hypoplasia.
    Prenatal diagnostic work-up undertaken because of mother''s age, 42 years.
    Aberration: Uniparental disomy
    Index Terms: upd(16)mat
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106946


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