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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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  • Back E, Stier R, Bohm N, Adlung A, Hameister H: Partial monosomy 22pter to q11 in a newborn with the clinical features of trisomy 13 syndrome. Ann. Genet. 23:244-248, 1981. [PubMed: 6971606]
    Aberration: Simple translocation
    Negative band
  • Benzacken B, Monier-Gavelle F, Siffroi J P, Agbo P, Chalvon A, Wolf J P.: Acrocentric chromosome polymorphisms: beware of cryptic translocations. Prenat. Diag. 21:96-98, 2001. [PubMed: 11241533]
    Earlier amniocentesis=46,XX.,Blood=46,XX,14pstk+.ish der(14)t(11;14)(p15;p13)de novo,(tel11p+,tel11q+,wcp11+;tel11p+,tel11q-,wcp11+).
    The 27-year-old mother was found to have a fetus with some anomalies and prenatal diagnosis had been performed. The clinical diagnosis of Beckwith-Wiedemann syndrome of the newborn and the enlarged 14p prompted further analyses revealing the 11p involvement.
    Aberration: Simple translocation
    MIM#: 130650
    Chromosomal Aneuploidy: 11p+
    Index Terms: BWS
  • Borck G, Rio M, Sanlaville D, Redon R, Molinari F, Bacq D, Raoul O, Cormier-Daire V, Lyonnet S, Amiel J, Le Merrer M, de Blois M-C, Prieur M, Vekemans M, Carter N P, Munnich A, Colleaux L. : Genome-wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardation. Clin. Genet. DOI=10.1111/j.1399-0004.2004.00288.x; 66:122-127, 2004. [PubMed: 15253762]
    97 patients were tested with 400 markers.
    Family 3:
    46,del(11)(p15).ish (D11S1331-,D11S4188-,D11S902-,D11S904-)
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 11p-
  • Same entry as in 04p140,04q130,06p230 (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]
    inv(11)(p15q13); inv(11)(p15q14).
    Aberration: Inversion pericentric
    Negative band
  • Tierney I, Axworthy D, Smith L, Ratcliffe S G: Balanced rearrangements of the autosomes: results of a longitudinal study of a newborn survey population. J. Med. Genet. 21:45-51, 1984. [PMC free article: PMC1049205] [PubMed: 6694184]
    Aberration: Reciprocal translocation
    Negative band
  • Calvas P, Frias S, Carnevale A, Reyes P: Partial trisomy 16q resulting from maternal translocation 11p/16q. Ann. Genet. 27:122-125, 1984. [PubMed: 6331790]
    Patient, 191079, was 3 1/2 years old.
    46,XY,-11,+der(11),t(11;16)(11qter -> 11p15::16q22 -> 16qter)mat.
    Aberration: Simple translocation
    Negative band
  • Chernos J E, Fowlow S B, Cox D M: A case of Perlman syndrome associated with a cytogenetic abnormality of chromosome 11. AJHG 47:A28, 1990.
    MIM#: 267000
    Negative band
  • Chudley A E, Bauder F, Ray M, McAlpine P J, Pena S D J, Hamerton J L: Familial mental retardation in a family with an inherited chromosome rearrangement. J. Med. Genet. 11:353-366, 1974. [PMC free article: PMC1013205] [PubMed: 4140909]
    Chudley A E, Kovnats S, Ray M: Recognizable behavioral and somatic phenotype in patients with proximal interstitial 18q deletion: report on a new affected child and follow-up on the original reported familial cases. AJMG 43:535-538, 1992. [PubMed: 1605245]
    McAlpine P J, Chudley A E, Bauder F, Ray M, Hamerton J L: Exclusion of peptidase-A structural gene locus from the q11q21 region of chromosome 18 in man. BD-OAS X(No. 3):126-127, 1974. [PubMed: 4827477]
    Case I-16 (140189) in this report.
    46,XY,ins(11;18)(p15;q11.2q12.3).&"46,XY,ins(11;18)(11pter -> 11p15::18q12.3 -> 18q11.2:: 11p15 -> 11qter;18pter -> 18q11.2::18q12.3 -> 18qter)."
    Cases II-4, II-5, II-6 and III-10 (210772) in this report.
    46,XX or XY,-18,+der(18)ins(11;18)(p15;q11.2q12.3)pat.
    Cases II-7, III-3 (070769) and III-16 (071069) in this report.
    46,XX,-11,+der(11)ins(11;18)(p15;q11.2q12.3)mat or pat.
    Cases II-9, II-13, II-15, II-17, III-6, (121170), III-14, (200466) and III-17 (141170) in this report.
    46,XX or XY,-11,-18,+der(11)der(18)ins(11;18)(p15;q11.2q12.3)mat or pat.
    Aberration: Direct insertion between two chromosomes
    Chromosomal Aneuploidy: 18q-
    Negative band
  • Cousineau A J, Higgins J V, Scott-Emualpor A B, Mody G: Ring 11 chromosome: phenotype-karyotype correlation with deletions of 11q. AJMG 14:29-35, 1983. [PubMed: 6829609]
    Aberration: Ring chromosome
    Negative band
  • Drut R M, Drut R.: Nonimmune fetal hydrops and placentomegaly: diagnosis of familial Wiedemann-Beckwith syndrome with trisomy 11p15 using FISH. AJMG 62:145-149, 1996. [PubMed: 8882394]
    A four generation family with four affected females in three sibships are presented.
    Patient 1, (IV-2), was detected during the 28th week of gestation because of polyhydramnios and placentomegaly. Pregnancy was terminated. Patient 2, IV-1, was ascertained the same way, at 23 weeks due to polyhydramnios and the pregnancy was terminated. Patient 3, IV-4, a paternal first cousin of patients 1 & 2 was 1 year old. Patient 4, IV-8, also a cousin, was 4 years old. WBS syndrome was diagnosed in these four patients.
    Aberration: Reciprocal translocation
    MIM#: 130650
    Chromosomal Aneuploidy: 11p+
    Index Terms: Wiedemann-Beckwith syndrome ... familial, placentomegaly,Nonimmune fetal hydrops
    Negative band
  • Eggermann T, Meyer E, Obermann C, Heil I, Schuler H, Ranke M B, Eggermann K, Wollmann H A. : Is maternal duplication of 11p15 associated with Silver-Russell syndrome? J. Med. Genet. 42:e26, 2005. [PMC free article: PMC1736048] [PubMed: 15863658]
    46 patients with SRS were screened.
    Family SR46: 46,XY,der(10)t(10;11)(q26.3;p15.3)denovo, dup(11)9 Mb bordered by D11S2071 and D11S4188 was maternal.,Family SR90:46,XX,der(15)t(11;15)(p15;p12).ish der(15)(wcp11+,RP11-89F15+,RP11-222J5+).dup(11)mat, 5Mb spanning from D11S2071 to D11S1760.
    These two patients showed signs of SRS.
    The authors suggest that diagnostic testing for duplication in 11p15 should be offered to patients with IUGR and PGR with clinical signs reminiscent of SRS.
    Aberration: Duplication
    Chromosomal Aneuploidy: 11p+
    Index Terms: Silver-Russell syndrome (SRS)
  • Einfeld S L, Smith A: Pericentric inversion of chromosome 11 in one of two similar retarded brothers. J. Med. Genet. 19:312, 1982. [PMC free article: PMC1048904] [PubMed: 7120323]
    46,XY,der inv(11)(p15q14)pat.
    Aberration: Inversion pericentric
    Negative band
  • Fagan K, Suthers G K, Hardacre G: Ring chromosome 11 and cafe-au-lait spots. AJMG 30:911-916, 1988. [PubMed: 3189413]
    Proposita III-4.
    The ring chromosome and cafe-au-lait spots were present in a mother and her two daughters.
    Aberration: Ring chromosome
    Index Terms: Cafe-au-lait
    Negative band
  • Francke U: Quinacrine mustard fluorescence of human chromosomes: Characterization of unusual translocations. AJHG 24:189-213, 1972. [PMC free article: PMC1762196] [PubMed: 5016511]
    Francke U: Regional mapping of human MDH-1 and IDH-1 on chromosome 2, LDH-A on chromosome 11, and thymidine kinase on chromosome 17. AJHG 26:31A, 1974.
    Francke U, Busby N: Assignments of the human genes for lactate dehydrogenase-A and thymidine kinase to specific chromosomal regions. BD-OAS XI(No. 3):143-149, 1975. [PubMed: 1203473]
    George D L, Phillips J A, Francke U, Seeburg P H: The genes for growth hormone and chorionic somatomamniotropin are on the long arm of human chromosome 17 in region q21 to qter. Hum. Genet. 57:138-141, 1981. [PubMed: 6262212]
    Case 4, LL (100668) in this report.
    46,XX,t(11;17)(p15;q21).&In the abstract the band region of chromosome 17 is cited as q13.
    Aberration: Simple translocation
    MIM#: 150000
    Negative band
  • Francke U, Foellmer B E, Haynes B F: Chromosome mapping of human cell surface molecules: monoclonal anti-human lymphocyte antibodies 4F2, A3D8, and A1G3 define antigens controlled by different regions of chromosome 11. Somat. Cell Genet. 9:333-344, 1983. [PubMed: 6190235]
    MIM#: 111150
    Negative band
  • Gadow E C, Lippold S, Otano L, Serafin E, Scarpati R, Matayoshi T: Chromosome rearrangements among couples with pregnancy losses and other adverse reproductive outcomes. AJMG 41:279-281, 1991. [PubMed: 1789279]
    46,XX or XY,t(11;18)(p15;p11).
    Aberration: Reciprocal translocation
    Index Terms: Pregnancy ... loss
    Negative band
  • Giraud F, Mattei J F, Mattei M G, Ayme S: Les inversions pericentriques. A propos de 47 observations. J. Genet. Hum. 27:109-122, 1979. [PubMed: 161573]
    Observation Nos. 9 and 10 in this report.
    Aberration: Inversion pericentric
    Negative band
  • Grundy P, Wilson B, Telzerow P, Zhou W, Paterson M C: Uniparental disomy occurs infrequently in Wilms tumor patients. AJHG 54:282-289, 1994. [PMC free article: PMC1918148] [PubMed: 8304345]
    31 cases were studied.
    "11p paternal hetero- and isodisomy appear to be uncommon causes of non-anomaly-associated Wilms tumors but may be more frequent in Wilms tumor patients with BWS-associated anomalies."
    MIM#: 194070
    Index Terms: Wilms tumor,UPD,Beckwith-Wiedemann syndrome
    Negative band
  • Harper M E, Ullrich A, Saunders G F: Localization of the human insulin gene to the distal end of the short arm of chromosome 11. PNAS 78:4458-4460, 1981. [PMC free article: PMC319810] [PubMed: 7027261]
    By in situ hybridization technique the human insulin gene was localized to 11p150.
    MIM#: 176730
    Negative band
  • Henry I, van Heyningen V, Puech A, Scrable H, Augereau P, Boehm T, Rabbitts T, Mannens M, Rochefort H, Jones C, Cavenee W K, Junien C: Reassessment of breakpoints in chromosome 11p15. Cytogenet. Cell Genet. 62:52-53, 1993. [PubMed: 8422757]
    Negative band
  • Itoh N, Becroft D M O, Reeve A E, Morison I M.: Proportion of cells with paternal 11p15 uniparental disomy correlates with organ enlargement in Wiedemann-beckwith syndrome. AJMG 92:111-116, 2000. [PubMed: 10797434]
    Aberration: Uniparental disomy
    MIM#: 130650
    Index Terms: Wiedemann-Beckwith syndrome
  • 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 No. K203-146-72 in this report.
    Aberration: Simple translocation
    Negative band
  • Kubota T, Saitoh S, Matsumoto T, Narahara K, Fukushima Y, Jinno Y, Niikawa N: Excess functional copy of allele at chromosomal region 11p15 may cause Wiedemann-Beckwith (EMG) syndrome. AJMG 49:378-383, 1994. [PubMed: 7909196]
    18 patient families were reported.
    BW10:46,XX,-14,+der(14)t(11;14)(p15.3;q32.3)pat.&"BW11:46,X,-X,+der(X)t(X;11)(p22.1;p13)de novo."
    Overexpression of paternally derived genes (UPD) at 11p15, probably the human insulin-like growth factor II (IGF-II) gene, may be responsible for the WBS phenotype.
    Aberration: ST,UPD
    MIM#: 130650
    Index Terms: Wiedemann-Beckwith syndrome
    Negative band
  • Mohamed A N, Ebrahim S A, Aatre R, Qureshi F, Jacques S M, Evans M I.: Prenatal diagnosis of a de novo ring chromosome 11. AJMG 102:368-371, 2001. [PubMed: 11503165]
    46,XX,r(11)(p15q25)de novo[14]/45,XX,-11[7]
    The 30 year old gravida 1, para 0 was evaluated because of maternal anxiety. Ultrasound suggested no significant abnormalities. FISH demonstrated intact subtelomeric regions. The parents decided to terminate the pregnancy. Autopsy revealed MCA.
    Aberration: Ring chromosome
  • Morton C C, Kirsch I R, Taub R, Orkin S H, Brown J A: Localization of the beta-globin gene by chromosomal in situ hybridization. AJHG 36:576-585, 1984. [PMC free article: PMC1684456] [PubMed: 6587773]
    Negative band
  • Niemitz E L, DeBaun M R, Fallon J, Murakami K, Kugoh H, Oshimura M, Feinberg A P.: Microdeletion of LIT1 in familial Beckwith-Wiedemann syndrome. AJHG DOI=0002-9297/2004/7505; 75:844-849, 2004. [PMC free article: PMC1182113] [PubMed: 15372379]
    Ping A J, Reeve A E, Law D J, Young M R, Boehnke M, Feinberg A P: Genetic linkage of Beckwith-Wiedemann syndrome to 11p15. AJHG 44:720-723, 1989. [PMC free article: PMC1715646] [PubMed: 2565083]
    MIM#: 130650
    Negative band
  • Niikawa N, Jinno Y, Tomiyasu T, Fukushima Y, Kudo K: Ring chromosome 11 (46,XX,r(11)(p15q25)) associated with clinical features of the 11q- syndrome. Ann. Genet. 24:172-175, 1981. [PubMed: 6974530]
    Patient was 2 years old and parents were not karyotyped. Clinical features of the patient included growth and psychomotor retardation, microbrachycephaly, hypertelorism, strabismus externus, short nose, low nasal bridge, low-set ears, microretrognathism, short neck, small opening of vagina with large clitoris, deformity of nails, cafe-au-lait spots on the skin, general hirsutism, congenital heart disease, generalized convulsions, and pancytopenia. It is suggested that the loss of the q25 to qter segment is mainly responsible for the characteristic clinical features of the 11q- syndrome.
    Aberration: Ring chromosome
    Index Terms: Clitoris ... large,Congenital heart defects (cardiovascular anomalies),Convulsion ... general,Ears ... low-set,Hirsutism,Hypertelorism,Microbrachycephaly,Microretrognathia,Nails ... deformity,Neck ... short,Pancytopenia,Skin ... cafe-au-lait spots,Strabismus,Vagina ... small opening
    Negative band
  • Nystrom A, Cheetham J E, Engstrom W, Schofield P N: Molecular analysis of patients with Wiedemann-Beckwith syndrome II. Paternally derived disomies of chromosome 11. Europ. J. Pediat. 151:511-514, 1992. [PubMed: 1356785]
    Patient N.
    MIM#: 130650
    Index Terms: Disomic ... paternal
    Negative band
  • Palka G, Verrotti A, Peca S, Mosca L, Lombardo G, Verrotti M, Morgese G: Ring chromosome 11. A case report and review of the literature. Ann. Genet. 29:55-58, 1986. [PubMed: 3487279]
    Patient was one year old.
    Aberration: Ring chromosome
    Negative band
  • Romain D R, Gebbie O B, Parfitt R G, Columbano-Green L M, Smythe R H, Chapman C J, Kerr A: Two cases of ring 11. J. Med. Genet. 20:380-382, 1983. [PMC free article: PMC1049155] [PubMed: 6315941]
    Case 1.
    46,XX,r(11)(p15;5q25); in the paper the breakpoint is given as p15.4 and p15.5 for case 1 ring].
    Case of Drs. McDermott and Lewis and Poulding of Bristol.
    Aberration: Ring chromosome
    Negative band
  • Rossi E, Piccini F, Zollino M, Neri G, Caselli D, Tenconi R, Castellan C, Carrozzo R, Danesino C, Zuffardi O, Ragusa A, Castiglia L, Galesi O, Greco D, Romano C, Pierluigi M, Perfumo C, Di Rocco M, Faravelli F, Bricarelli F D, Bonaglia M C, Bedeschi MF, Borgatti R.: Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations. J. Med. Genet. 38:417-420, 2001. [PMC free article: PMC1734891] [PubMed: 11424927]
    Case 13=del(11p)de novo,<3 cM(892G9+;D11S4046+), paternal origin.
    The 6 year old patient had severe MR, epilepsy, West syndrome, metabolic acidosis, microcephaly, ogival palate, simplified ears, thick lips, and micrognathia.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 11p-
    No band
  • Shuman C, Smith A C, Steele L, Ray P N, Clericuzio C, Zackai E, Parisi M A, Meadows A T, Kelly T, Tichauer D, Squire J A, Sadowski P, Weksberg R.: Constitutional UPD for chromosome 11p15 in individuals with isolated hemihyperplasia is associated with high tumor risk and occurs following assisted reproductive technologies. AJMG Part A: 140A: 1497-1503, 2006. [PubMed: 16770802]
    2/8 patients with UPD and IH were conceived using assisted reproductive technologies (ART).
    Aberration: Uniparental disomy
    Index Terms: Isolated hemihyperplasia (IH)
  • Simola K, Karli P, de la Chapelle A: Two pericentric inversions of human chromosome 11. J. Med. Genet. 14:371-374, 1977. [PMC free article: PMC1013623] [PubMed: 592354]
    inv(11)(p15q23) occurred in 3 members in three different generations. There was no clear cut evidence of any clinical consequence.
    Aberration: Inversion pericentric
    Negative band
  • Turleau C, de Grouchy J: Beckwith-Wiedemann syndrome. Clinical comparison between patients with and without 11p15 trisomy. Ann. Genet. 28:93-96, 1985. [PubMed: 2994545]
    Turleau C, de Grouchy J, Chavin-Colin F, Martelli H, Voyer M, Charlas R: Trisomy 11p15 and Beckwith-Wiedemann syndrome. A report of two cases. Hum. Genet. 67:219-221, 1984. [PubMed: 6745943]
    Case 1 (Obs. No. 11921).
    Aberration: Direct duplication
    MIM#: 130650
    Index Terms: Beckwith-Wiedemann syndrome
    Negative band
  • Uchida I A, Freeman V, In, Daniel A, Hook E B, Wulf G: Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. AJMG 33:14-53, 1989. [PubMed: 2750783]
    Observation No. 955.
    Aberration: Reciprocal translocation
    Negative band
  • Valente M, Muller H, Sparkes R S: Ring 11 chromosome (46,XX,r11(p15q25)). Hum. Genet. 46:345-350, 1977. [PubMed: 856722]
    Case EN (7 years) in this report.
    The ring chromosome does not appear to have any deficiency of chromosome 11. The patient had small stature, mild retardation, behavior problems, mild abnormal EEG, prominent sole furrows, increased deep tendon reflexes and hypothyroidism.
    Aberration: Ring chromosome
    Index Terms: Hypothyroidism,Stature ... short (low)
    Negative 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]
    Study done in couples with abortions or stillbirths.
    Aberration: ST,PI
    Negative band
  • Same entry as in 01q110,03p130,04q130 (Warburton D, 1991).
  • Warburton D: De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. AJHG 49:995-1013, 1991. [PMC free article: PMC1683246] [PubMed: 1928105]
    Aberration: Reciprocal translocation
    Negative band
  • West P M H, Love D R, Stapleton P M, Winship I M.: Paternal uniparental disomy in monozygotic twins discordant for hemihypertrophy. J. Med. Genet. 40:223-226, 2003. [PMC free article: PMC1735397] [PubMed: 12624145]
    46,XX,mos UPD(11)(p15)pat
    Twin 1 had normal appearance whereas twin 2 had hemihypertrophy.
    Aberration: Uniparental disomy
    MIM#: 130650
    Chromosomal Aneuploidy: 11p+
    Index Terms: Hemihypertrophy
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105466


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