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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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Mar+

  • Same entry as in +21 (Scott et al, 1996).
  • Al-Kouatly H B, Chasen S T, Gilbert F, Ahner R, Alonso L M, Chervenak F A.: Correlation between rare chromosomal abnormalities and prenatal ultrasound findings. AJMG 10.1002/ajmg.10130;107:197-200, 2002. [PubMed: 11807899]
    Case 12=mos47,XY,+mar de novo/46,XY.
    Mother was 42 years old. Mild pyelectasis, then IUGR were noted. Hypotonia, failure to thrive, and global developmental delay.
    Positive NOR, positive bisatellited FISH:14/22 probe+, no active genes for 22.
    Case 13=mos47,XY,+mar de novo/46,XY.
    Mother was 45 years old. CPCs, pyelectasis, abnormal hand position, ?cleft lip. VSD detectedy echocardiography.
    Case 14=mos47,XY,+mar de novo/46,XY.
    Mother was 33 years old. Thickened nuchal fold, 6.5mm. D & E was performed with nonrevealing autopsy.
    Index Terms: Pyelectasis
  • Armendares S, Buentello L, Salamanca F: An extra small metacentric autosome in a mentally retarded boy with multiple malformations. J. Med. Genet. 8:378-380, 1971. [PMC free article: PMC1469183] [PubMed: 5097147]
    47,XY,+mar.
  • Bartsch H D, de Azevedo Moreira L M, Rohrborn G, Claussen U, Gebauer H J: Possible origin of a small bisatellited additional chromosome. Hum. Genet. 54:319-322, 1980. [PubMed: 6931099]
    47,XX or XY,+mar.&A healthy daughter was born after this marker was detected in amniotic fluid culture preparations and mother had elected to continue the pregnancy.
  • Benn P A, Hsu L Y F: Incidence and significance of supernumerary marker chromosomes in prenatal diagnosis. AJHG 36:1092-1102, 1984. [PMC free article: PMC1684529] [PubMed: 6594043]
  • Bernstein R, Hakim C, Hardwick B, Nurse G T: Significance of detection of extra metacentric microchromosome in amniotic cell culture. J. Med. Genet. 15:136-142, 1978. [PMC free article: PMC1013663] [PubMed: 641948]
    Fixed talipes equinovarus was the only deformity in the abortus, the amniotic cultures of which showed a metacentric bisatellited chromosome.
  • Borgaonkar D S: Application of new technics of chromosome identification to cytogenetic problems. BD-OAS IX(No. 1):171-182, 1973. [PubMed: 4120145]
    Borgaonkar D S: Unpublished data, 1982.
    Borgaonkar D S, Schimke R N, Thomas G H: Report of five unrelated patients with a small, metacentric, extra chromosome or fragment. J. Genet. Hum. 19:207-222, 1971. [PubMed: 5150016]
    46,XX and XY,+mar.,The problem of identification of a small extra chromosome is discussed.
    Patient No. 1234 in WMC cytogenetics laboratory. Parents elected to continue the pregnancy after the finding of a +mar karyotype in the amniotic fluid culture preparations. Baby was clinically normal at birth.
  • Buckton K E, Spowart G, Newton M S, Evans H J: "Forty four probands with an additional ""marker"" chromosome." Hum. Genet. 69:353-370, 1985. [PubMed: 3857214]
    Wolstenholme J, Brummitt J A, English C J, Goodship J A: Prenatal detection of multiple copies of a familial supernumerary marker chromosome. Prenat. Diag. 12:1067-1071, 1992. [PubMed: 1287643]
    Case K231/22/73 was followed.
    47,XX,+mar-mother.&48,XX,+mar,+mar.
    The child at delivery and at 1 year of age showed no phenotypic abnormality or developmental problems.
  • Bugge M, Blennow E, Friedrich U, Petersen M B, Pedeutour F, Tsezou A, Orum A, Hermann S, Lyngbye T, Sarri C, Avramopoulos D, Kitsiou S, Lambert J C, Guzda M, Tommerup N, Brondum-Nielsen K.: Tetrasomy 18p de novo: parental origin and different mechanisms of formation. Europ. J. Hum. Genet. 4:160-167, 1996. [PubMed: 8840116]
    Nielsen K B, Dyggve H V, Friedrich U, Hobolth N, Lyngbye T, Mikkelsen M: Small metacentric nonsatellited extra chromosome. Report of five mentally retarded individuals and review of literature. Contribution to further delineation of a new syndrome. Hum. Genet. 44:59-69, 1978. [PubMed: 711239]
    Five mentally retarded male patients with a supernumerary small metacentric nonsatellited chromosome were found to have many clinical features in common. The face showed characteristic small crowded features, the bodily habitus was asthenic, and the hands and feet had minor abnormalities. Renal anomalies were present in two patients. One patient had a myelomeningocele. Four patients showed the small extra chromosome to have staining properties compatible with an isochromosome of the short arm of chromosome 18.
    Index Terms: Face ... small, crowded features,Foot ... anomalies,Hand ... anomalies,Myelomeningocele
  • Calabro A, Lungarotti M S, Mariotti G, Dallapiccola B: A supernumerary small-sized ring chromosome associated with minor congenital malformations and mental retardation. Riv. Ital. Ped. 3:119-122, 1977.
    Lungarotti M S, Calabro A: Supernumerary small ring chromosome. J. Med. Genet., [PMC free article: PMC1013771] [PubMed: 745223]
    46,XX,+r(mar).
  • Callen D F, Ringenbergs M L, Fowler J C S, Freemantle C J, Haan E A: Small marker chromosomes in man: origin from pericentric heterochromatin of chromosomes 1, 9, and 16. J. Med. Genet. 27:155-159, 1990. [PMC free article: PMC1016996] [PubMed: 2325088]
    Patient 1
    mos46,XX,del(18)(q22)/47,XX,del(18)(q22),+mar.
    See under 010000 Callen and colleagues'' 1992 paper material.
    Patient 2.
    mos46,XX/47,XX,+mar.
    Patient 3.
    mos46,XY/47,XY,+mar.
  • Capobianco S, Ametrano O, Bruna M D, Capuano V, Colantuoni M, Morra M, Apolito R, Saviano M: Cat-eye syndrome: description of a case with high neurological compromission. Riv. Ital. Ped. 12:431-435, 1986.
    Patient M. Stefania(EC 10 months).
    47,XX,+met?
    Index Terms: Cat's eye syndrome
  • Chandley A C, Edmond P, Christie S, Gowans L, Fletcher J M, Frackiewicz A, Newton M S: Cytogenetics and infertility in man. I. Karyotype and seminal analysis. Results of a five-year survey of men attending a subfertility clinic. Ann. Hum. Genet. 39:231-254, 1975. [PubMed: 1052767]
    Cases N.M. (MRC Registry No. K64/126/69), I.M. (K65/265/69), J.B. (PK95/29/71) and R.D. (K88/276/70) in this report.
    Index Terms: Sterility ... male
  • Chen H, Harris J: Prenatal diagnosis in the presence of an extra small chromosome in amniotic cell culture. Ann. Genet. 23:97-99, 1980. [PubMed: 6967293]
    47,XX,+mar.,47,XY,+der(mar)mat.,Having denied a therapeutic abortion the pregnancy was continued and a normal baby boy was born.
  • Copeland K C, Hansen K, Moore C M: Multiple congenital anomalies, mental retardation and hypogonadotropic hypogonadism in a boy with small marker chromosomes. AJMG 20:607-612, 1985. [PubMed: 3887915]
    mos46,XY(25%)/46,XY,+r(mar1),+mar2(43%)/,47,XY,+mar1(14%)/46,XY,+mar2(18%).
    Index Terms: Gonadal dysgenesis ... hypogonadism,Hypogonadism
  • Crolla J A, Long F, Rivera H, Dennis N R.: FISH and molecular study of autosomal supernumerary marker chromosomes excluding those derived from chromosomes 15 and 22: I. Results of 26 new cases. AJMG 75:355-366, 1998. [PubMed: 9482641]
    Crolla J A.: FISH and molecular studies of autosomal supernumerary marker chromosomes excluding those derived from chromosome 15: II. Review of the literature. AJMG 75:367-381, 1998. [PubMed: 9482642]
    Index Terms: UPD
  • Djalali M: The significance of accessory bisatellited marker chromosomes in amniotic fluid cell cultures. Ann. Genet. 33:141-145, 1990. [PubMed: 2288457]
    13 cases are presented.
    It appears that the actual risk for a fetus to be affected may be low.
  • Dumars K W, Fialko G, Larson E: E trisomy phenotype associated with small metacentric chromosome and a familial Y-22 translocation. BD-OAS XII(No. 5):97-104, 1976. [PubMed: 953249]
    47,XY plus small metacentric chromosome.
  • Dzarlieva R, Efinski D, Sopova M: Genetic prognosis and counselling in the presence of extra small chromosomes. J. Genet. Hum. 23:197-206, 1975.
    Five cases are presented and the problems related to genetic counseling in such patients are discussed. The need of exclusion of non-chromosomal factors in the etiology of mental retardation and congenital malformations is pointed out.
    Index Terms: Congenital heart defects (cardiovascular anomalies)
  • 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 16 in this report.
    47,XY,+mar.
  • Finley W H, Finley S C, Monsky D: An extra small metacentric chromosome in association with multiple congenital abnormalities. J. Med. Genet. 8:381-383, 1971. [PMC free article: PMC1469157] [PubMed: 5097148]
    47,XX,+mar.
  • Fitzgerald P H, Mercer J M: Elimination of an abnormal cell line from blood lymphocytes during post-natal growth. Clin. Genet. 17:433-436, 1980. [PubMed: 7398116]
    Gardner R J M, Dockery H E, Fitzgerald P H, Parfitt R G, Romain D R, Scobie N, Shaw R L, Tumewu P, Watt A J: Mosaicism with a normal cell line and an autosomal structural rearrangement. J. Med. Genet. 31:108-114, 1994. [PMC free article: PMC1049669] [PubMed: 8182714]
    Case 2:
    mos46,XX/47,XX,+mar.
    Case 4:
    mos46,XX/46,XX,r(?).
    Index Terms: Mosaicism
  • Forabosco A, Guaraldi G P, Baroncini A, Ferrari E, Bassi C: Mosaicism for an extra small ring chromosome. Develop. Med. Child Neurol. 22:92-96, 1980. [PubMed: 7358237]
    Patient R. B., was a 13 year old girl with minimal phenotypic anomalies and moderate mental retardation.
    mos 46,XX(10%)/47,XX,+r(mar)(85%)/48,XX,+r(mar)+r(mar)(5%).
  • Freedom R M, Gerald P S: "Congenital cardiac disease and the ""cat-eye"" syndrome." AJDC 126:16-18, 1973. [PubMed: 4723166]
    47,XX and XY,+mar.
    Index Terms: Cat's eye syndrome
  • Fried K, Rosenblatt M: A familial extra small marker autosome in persons with normal phenotype. Hum. Hered. 29:371-373, 1979. [PubMed: 511193]
    46,XX,+mar.&46,XY,+der(mar)mat.&Another brother who was the proband and was karyotyped because of sterility and oligospermia was 45,XY,t(13q14q).
    Index Terms: Oligospermia,Oligozoospermia,Sterility ... male
  • Friedrich U, Nielsen J: Bisatellited extra small metacentric chromosome in newborns. Clin. Genet. 6:23-31, 1974. [PubMed: 4426127]
    Proband Nos. 4767, 6013 and 9421 in this report.
    47,XX and XY,+mar.&47,XX and XY,+der(mar)mat.
  • Fryns J P, Eggermont E, Verresen H, van den Berghe H: A newborn with the cat-eye syndrome. Humangenetik 15:242-248, 1972. [PubMed: 5082091]
    Fryns J P, Kleczkowska A, Kubien E, Van Den Berghe H: Cytogenetic findings in moderate and severe mental retardation. A study of an institutionalized population of 1991 patients. Acta Paed. Scand. Suppl. 313:1-23, 1984. [PubMed: 6241420]
    Fryns J P, Kleczkowska A, Van Den Berghe H: Small accessory chromosomes (SAC) and their genotype - Phenotype correlation. J. Genet. Hum. 30:215-232, 1982. [PubMed: 7153768]
    Patient G.B. in this report.
    46,XY,/47,XY,+mar.
    Index Terms: Cat's eye syndrome
  • Furbetta M, Rosi G, Biagioni M, Cossu P, Cao A: A case of extra small acrocentric bisatellited chromosome in a non Mongoloid child. Humangenetik 30:259-263, 1975. [PubMed: 1184008]
    Case M.M.T. in this report.
  • Garnham I, Fernandez H, Callen D F, Haan E A, Sutherland G R: Discordance between direct and PHA-stimulated chromosome preparations from neonates. Clin. Genet. 45:277-280, 1994. [PubMed: 7923854]
    Case 1:
    47,+mar.
  • Giraud F, Mattei J F, Hartung M, Mattei M G: Small submetacentric supernumerary chromosome and the cat''s eyes syndrome. Ann. Ped. 22:449-452, 1975.
    Patient Pierre M. in this report.
    47,XY,+mar.
    Index Terms: Cat's eye syndrome
  • Goh K O, Herrmann M A, Campbell R G, Thompson D: Abnormal chromosome in Prader-Willi syndrome. Clin. Genet. 26:597-601, 1984. [PubMed: 6499272]
    mos46,XX/47,XX,+mar.
    MIM#: 176270
    Index Terms: Prader-Willi ... Critical Region (PWCR)
  • Graf M D, Christ L, Mascarello J T, Mowrey P, Pettinati M, Stetten G, Storto P, Surti U, Van Dyke D L, Vance G H, Wolff D, Schartz S.: Redefining the risks of prenatally ascertained supernumerary marker chromosomes: a collaborative study. J. Med. Genet. 43: 660-664, 2006. [PMC free article: PMC2564588] [PubMed: 16882740]
    These authors suggest that there is a 26% risk for phenotypic abnormality when there is no other information defining the marker (such as chromosomal origin or information about the existing phenotype).
  • Haas-Andela H, Hansen S, Foerster W, Fuhrmann W: Familial additional chromosomal fragment ascertained in amniotic cell culture. Clin. Genet. 19:46-50, 1981. [PubMed: 7460381]
    The fragment was present in at least three generations. A healthy girl was born.
  • Hansen A, Brask B H, Nielsen J, Rasmussen K, Sillesen I: A case report of an autistic girl with an extra bisatellited marker chromosome. J. Autism Child Schizo. 7:263-267, 1977. [PubMed: 578514]
    Rasmussen K, Nielsen J, Sillesen I, Brask B H, Saldana-Garcia P: A bisatellited marker chromosome in a mentally retarded girl with infantile autism. Hereditas 82:37-42, 1976. [PubMed: 1262237]
    Patient No. 3/3 in this report was 14 years old.
    47,XX,+t(13;22)(pter -> p11::q13 -> pter).
  • Herweijer T J, Oorthuys J W E, Leschot N J: De novo partial trisomy 15q (proximal type). J. Med. Genet. 25:260-262, 1988. [PMC free article: PMC1015510] [PubMed: 2966860]
    Patient was mentally retarded and 15 months old.
    47,XX,+mar.
  • Hoo J J, Drummond M, Parslow M I, Chambers D: The ring nature of a tiny supernumerary chromosomal fragment. AJMG 5:331-337, 1980. [PubMed: 7395914]
    Patient NM, 5 1/2 years old, in this report. Parents had normal karyotypes.
    Mos 46,XX/47,XX,+r(mar).
  • Howard-Peebles P N: A familial bisatellited extra metacentric microchromosome in man. J. Hered. 70:347-348, 1979. [PubMed: 294464]
    A 27 1/2 year old normal white male inherited the marker chromosome from the father who was also normal.
  • Jaafar H, Gabriel-Robez O, Vignon F, Flori E, Rumpler Y: Supernumerary chromosomes and spermatogenesis in a human male carrier. Hum. Genet. 94:74-76, 1994. [PubMed: 8034297]
    47,XY,+mar.
    Patient was 57 years old with sterility, had four wives who all conceived during subsequent marriages with other partners.
    The supernumerary chromosome was bisatellited.
    Index Terms: Sterility,Spermatogenesis
  • Jensen P K A, Hansen P: A bisatellited marker chromosome in an infant with the caudal regression anomaly. Clin. Genet. 19:126-129, 1981. [PubMed: 6937274]
    47,XY,+mar.&The patient died 15 minutes after birth because of asphyxia.
  • Johnson L D, Harris R C, Henderson A S: Ribosomal DNA sites in a metacentric chromosome fragment. Hum. Genet. 21:217-219, 1974. [PubMed: 4847727]
    Case D. T. (9 months) in this report with the clinical picture of the cat eye syndrome with the exception that the patient has biliary rather than anal atresia. The patient had mild hypertelorism, bilateral vertical colobomata of the iris and choroid, bilateral preauricular sinuses, butterfly vertebra at T4 and T6, rounded narrow fingernails, hip dislocation at birth, and atresia of the extrahepatic biliary tree. There was an increased frequency of nuclear projections in the neutrophils.
    Index Terms: Cat's eye syndrome,Coloboma,Dislocation ... hip,Ears ... preauricular skin tags,Hepatic biliary tree,Hip(s) ... dislocation (coxa vara),Hypertelorism,Nails ... rounded, narrow,Vertebra ... butterfly
  • Kadotani T, Kanata S, Watanabe Y, Kurosaki N, Kumada T, Toi O: A case of marker chromosome mosaicism with mental retardation. Proc. Jpn. Acad. (Ser. B) 63:76-78, 1987.
    Patient was 27 years old and had hydrocephaly.
    mos46,XY/47,XY,+mar.
    Index Terms: Hydrocephalus
  • Kakati S, Xiao H, Siddiqui S Y, Sreekantaiah C, Weier H U G, Green D M, Fisher J E, Allen J E: Constitutional extra chromosomal element in a family with Wilms'' tumor. Hum. Genet. 87:183-188, 1991. [PubMed: 1648545]
    47,XY,+r.
    Patient had bilateral WT.
    MIM#: 194070
  • 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. 24=47,XY,+mar.
    Case of a missed abortion, suspected trisomy 13, but the marker chromosome is assumed to be inactive and of no clinical significance.
    Case No. 26=mos47,XY,+mar/46,XY.
    Case ascertained prenatally, and the pregnancy resulted in a healthy child.
    Case No. 27=46,XY,+mar.
    Case ascertained prenatally and the marker is assumed to be inactive.
    Case No. 40=47,XY,+der(mar)mat.
    Case ascertained prenatally.
    The marker is assumed to be inactive.
  • Kousseff B G: Chromosomal abnormality in Prader-Willi syndrome. Clin. Genet. 17:364-366, 1980. [PubMed: 6934052]
    Index Terms: Prader-Willi ... Critical Region (PWCR)
  • Kratzer P G, Golbus M S, Schonberg S A, Heilbron D C, Taylor R N: Cytogenetic evidence for enhanced selective miscarriage of trisomy 21 pregnancies with advancing maternal age. AJMG 44:657-663, 1992. [PubMed: 1481829]
    47,XX,+dic mar,bisat,pat.,47,XX,+mar, bisat, de novo.,mos46,XX/47,XX,+mar, de novo.,47,XY,+mar, sat, de novo.,mos46,XX/47,XX,+dic mar, sat, de novo.
  • Kunze J, Tolksdorf M, Wiedemann H R: Cat-eye syndrome. Clinical and cytogenetical differential diagnosis. Humangenetik 26:271-289, 1975. [PubMed: 50268]
    Case M.B. (170968) in this report.
    47,XX,+mar.
    Index Terms: Cat's eye syndrome
  • Langer S, Fauth C, Rocchi M, Murken J, Speicher M R.: AcroM fluorescent in situ hybridization analyses of marker chromosomes. Hum. Genet. 109:152-158, 2001. [PubMed: 11511920]
    Case 16=+der(?)(:cen:).
    Case ascertained because of MR.
    Index Terms: SMC,AcroM
  • Lee M L, Schneider J, Wasant P, Yu C W, Trpis L, Liang Y W, Lewis B M, Borkowf S P, Borgaonkar D S: Supernumerary small chromosome anomaly: report of three cases including one with a familial inversion of chromosome 5. J. Genet. Hum. 26:275-285, 1978. [PubMed: 739263]
    Case 1: 47,XY,+mar.
    Case III: 47,XX,+mar.
    47,XX,+der(mar)mat.
  • Lim A S T, Ho A T N, Tsakok M F H.: Chromosomes of oocytes failing in-vitro fertilization. Hum. Reprod. 10:2570-2575, 1995. [PubMed: 8567772]
    The authors suggest that both predivision and nondisjunction contribute to the formation of trisomy.
    24,X,+mar; and 23,X,-E,+mar were identified.
  • Lin C C, Meyne J, Sasi R, Bowen P, Unger T, Tainaka T, Hadro T A, Hoo J J: Determining the origins and the structural aberrations of small marker chromosomes in two cases of 45,X/46,X,+mar by use of 45,X/46,X,+mar by use of chromosome-specific DNA probes. AJMG 37:71-78, 1990. [PubMed: 2240047]
    Patient 1 (S.M.)
    Patient 2 (C.L.).
  • Martin R H, Hildebrand K A, Yamamoto J, Peterson D, Rademaker A W, Taylor P, Lin C C: The meiotic segregation of human sperm chromosomes in two men with accessory marker chromosomes. AJMG 25:381-388, 1986. [PubMed: 3465241]
    Donors A and B were 39 and 31 years old respectively. The results suggests that there may be an increased risk of aneuploid gametes.
  • Mascarello J T, Jones M C, Chambers S R: A patient with extreme variation in number and size of small marker chromosomes. Hum. Genet. 75:191-194, 1987. [PubMed: 3469138]
    Patient was 4 10/12 years old with pulmonic stenosis, neck webbing, proptosis, camptodactyly, and developmental delay.
    mos46,XX/47,XX,+mar/48,XX,+mat,+mar/ 49,XX,+mar,+mar,+mar/50,XX,+mar,+mar,+mar,+mar/ 51,XX,+mar,+mar,+mar,+mar,+mar.
    The marker chromosomes varied in size; some were rod shaped and some ring.
    Index Terms: Camptodactyly,Neck ... webbed
  • Michaelsen K F, Lundsteen C, Hansen F J: Prader-Willi syndrome and chromosomal mosaicism 46,XY/47,XY,+mar in two cases. Clin. Genet. 16:147-150, 1979. [PubMed: 573673]
    In this report a possible relationship between high paternal age and chromosome abnormalities in the Prader-Willi syndrome is discussed.
    Index Terms: Prader-Willi ... Critical Region (PWCR)
  • Michalski K, Rauer M, Williamson N, Perszyk A, Hoo J J: Identification, counselling, and outcome of two cases of prenatally diagnosed supernumerary small ring chromosomes. AJMG 46:88-94, 1993. [PubMed: 8494036]
    Case 1:
    mos46,XX(74)/47,XX,+r(mar)(26)-amniotic fluid.&mos46,XX(78%)/47,XX,+r(mar)(22%)-fetal blood.&mos46,XX(80%)/47,XX,+r(mar)(20%)-second amniotic fluid.&mos46,XX,r(mar)(84%)/47,XX,+r(mar)(16%)-cord blood.&mos46,XX,(92%)/47,XX,+r(mar)(8%)-blood at 9 mo of age.
    A mild degree of left esotropia was noted at age of 3 months and her psychomotor development was normal at age of 9 months.
    Case 2:
    mos46,XY(54%)/47,XY,(46%)-blood at 10 mo of age.
    Normal growth and development has been observed in this child.
    Parents encouraged the authors to write these cases up]
  • Mohandas T K, Canning N, Chu W, Passage M B, Anderson C E, Kaback M M: Marker chromosomes: cytogenetic characterization and implications for prenatal diagnosis. AJMG 20:361-368, 1985. [PubMed: 2579555]
  • Muneer R S, Himes J R, Payne-Howell R M, Thompson L M, Rennert O M: A supernumerary microchromosome in amniotic cell cultures and talipes equinovarus in a live born female. Clin. Genet. 26:477-480, 1984. [PubMed: 6499260]
    mos46,XX/47,XX,+mar.
  • Neri G, Malvezzi D C, Serra A, Bova R, Pelino A, Maugiatti L: Properties and significance of a small marker chromosome in amniotic fluid cells. Clin. Genet. 18:253-256, 1980. [PubMed: 6934054]
  • Nielsen J, Rasmussen K: Extra marker chromosome in newborn children. Hereditas 81:221-224, 1975. [PubMed: 1213907]
    Six out of 11,148 newborn children were found to have an extra, small metacentric chromosome. No deleterious effect was found. Proband Nos. 16, 819, 10,688 and 13,505 in this report. Three others were reported earlier. All parents, except one father, were found to have normal karyotypes.
  • Noel B, Ayraud N, Levy M, Can D: Le syndrome des yeux de chat. Etude chromosomique et conseil genetique. J. Genet. Hum. 24(Suppl.)279-291, 1976. [PubMed: 1025280]
    Proband (68-736) and son (74-845) in this report.
    47,XY,+mar.&Suggestion has been made that cat''s eye syndrome is caused by a partial 13 trisomy.
    Index Terms: Cat's eye syndrome
  • Ogata K, Iinuma K, Kamimura K, Morinaga R, Kato J: A case report of a presumptive +i(18p) associated with serum IgA deficiency. Clin. Genet. 11:184-188, 1977. [PubMed: 837568]
    A four-month-old patient with retarded psychomotor development and multiple anomalies.&47,XY,+mar.
  • Ogilvie C M, Harrison R H, Horsley S W, Hodgson S V, Kearney L.: A mitotically stable marker chromosome negative for whole chromosome libraries, centromere probes and chromosome specific telomere regions: a novel class of supernumerary marker chromosome? Cytogenet. Cell Genet. 92:69-73, 2001. [PubMed: 11306799]
    47,XY,+mar
    The 2 year old boy had some dysmorphic features.
  • Ohashi H, Tsukahara M, Murano I, Naritomi K, Nishioka K, Miyaki S, Kajii T: Pigmentary dysplasias and chromosomal mosaicism: report of 9 cases. AJMG 43:716-721, 1992. [PubMed: 1621763]
    Patient No. 9.
    mos46,XX/47,XX,+mar.
    Hypopigmented patches on the body, and lines on the limbs.
    Index Terms: Pigmentary dysplasia
  • Pecile V, Archidiacono N, Rustico M A, Fiscella C, Rocchi M: A prenatally detected inv dup(15). AJMG 18:751-753, 1984. [PubMed: 6486172]
    47,XY,+mar.
  • Pescia G, Jotterand-Bellomo M, Flury R: Extra microchromosome mosaicism in amniotic cells confirmed in fetal tissues. J. Genet. Hum. 28:175-183, 1980. [PubMed: 6944439]
    mos 46,XY/47,XY,+mar.&All of the cases reported were found to have phenotypically normal fetuses and are male]
  • Petit P, Godart S, Fryns J P: Silver staining of the supernumerary chromosome in the cat-eye syndrome. Ann. Genet. 23:114-116, 1980. [PubMed: 6156636]
    Index Terms: Cat's eye syndrome
  • Pierson M, Gilgenkrantz S, Saborio M: Syndrome dit de l''oeil de chat avec nanisme hypophysaire et developpement mental normal. Arch. Fr. Ped. 32:835-848, 1975. [PubMed: 1217955]
    Case Br. Jose (061067) in this report.
    47,XY,+mar.,The patient had pituitary dwarfism and normal intelligence.
  • Reddy K S, Wang S, Groh S, Gonatos J.: SKY (TM) assessment of two karyotypes with 0-6 supernumerary marker/ring chromosomes and review of previously reported cases with two or more markers. AJMG 118A:156-171, 2003. [PubMed: 12655496]
    Patient 1=48,XY,+marx2[2]/49,XY,+marx3[13]/50,XY,+marx4[19]/51,XY,+mar5[15]/52,XY,+marx6[1]-GTG.With SKY the origin of markers was found to be from 1, 3, 5, 7, 11, 15, and 22. ,Patient 2=46,XY[5]/47,XY,+mar1[1]/47,XY,+mar2[4]/47,XY,+mar3[2]/48,XY,+mar1-2[5]/48,XY,+mar2-3[9]/49,XY,+mar1-3[19]/49,XY,+mar2-4[1]/49,XY,+mar2-3,+mar5[1]/50,XY,+mar2-3,+mar5-6[1]/50,XY,+mar1-4[1]/51,XY,+mar1-3,+mar5-6[1]-GTG. With SKY the origin of markers was to be from 1, 5, 6, or 7.
    Patient 1 was 7 months old with developmental delay, a poor feeder with marked hypotonia, macroglossia, and low set ears.,Patient 2 was 58 years old, was being tested for fragile-X syndrome because of MR, impaired speech, and dysmorphic features.
    Index Terms: SKY
  • Romain D R, Columbano-Green L M, Smythe R H, Dukes P C: Discovery of an inherited bisatellited metacentric microchromosome in amniotic cell culture. Clin. Genet. 16:183-190, 1979. [PubMed: 90568]
    47,XX,+mar.
  • Rosenfeld W, Verma R S, Jhaveri R C: Cat-eye syndrome with unusual marker chromosome probably not chromosome 22. AJMG 18:19-24, 1984. [PubMed: 6588751]
    Baby girl B., Parental karyotypes were normal.,47,XX,+mar.
    Index Terms: Cat's eye syndrome
  • Schinzel A A: Autistic disorder and additional inv dup(15)(pter to q13) chromosome. AJMG 35:447, 1990. [PubMed: 2353962]
    Wahlstrom J, Steffenburg S, Hellgren L, Gillberg C: Chromosome findings in twins with early-onset autistic disorder. AJMG 32:19-21, 1989. [PubMed: 2705478]
    Wik Sjostedt A, Wahlstrom J: Autistic disorder and additional inv dup(15)(pter to q13). AJMG 35:448, 1990. [PubMed: 2353962]
    47,XY,+mar.
    MIM#: 209850
    Index Terms: Autis(m)(tic)
  • Smith A, Cohen M, den Dulk G: Recurrence of different mosaic structural chromosomal anomalies within a family. Ann. Genet. 32:36-38, 1989. [PubMed: 2751246]
    A male fetus was studied, and fragile site studies were done in the family which showed that they were 9p21 and 12q13.
    mos46,XY/47,XY,+mar.&46,XX,fra(9)(p21,fra(12)(q13).&"46,XY,-21,+t(17;21)."
    Studies done on villi. Fetus aborted spontaneously.
  • Soudek D, Sroka H: C-bands in seven cases of accessory small chromosomes. Clin. Genet. 12:285-289, 1977. [PubMed: 589849]
  • Stamberg J, Thomas G H: Unusual supernumerary chromosomes: types encountered in a refereed population, and high incidence of associated maternal chromosome abnormalities. Hum. Genet. 72:140-144, 1986. [PubMed: 3455921]
    19 cases with an extra chromosome are presented.
    47,+mar.
  • Starke H, Nietzel A, Weise A, Heller A, Mrasek K, Belitz B, Kelbova C, Volleth M, Albrecht B, Mitulla B, Trappe R, Bertels I, Adolph S, Dufke A, Singer S, Stumm M, Wegner R-D, Seidel J, Schmidt A, Kuechler A, Schreyer I, Claussen U, von Eggeling F, Liehr T.: Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification. Hum. Genet. DOI=10.1007/s00439-003-1016-3;114:51-67, 2003. [PubMed: 13680362]
    35 SMCs derived from all the human chromosomes, except 6, were studied.
    In nine cases without an aberrant phenotype, neither partial proximal trisomies nor UPD could be detected. Small proximal trisomies of 1p, 1q, 2p, 6p, 6q, 7q, 9p, and 12q seem to lead to clinical manifestations, whereas partial proximal trisomies of 2q, 3p, 3q, 5q, 7p, 8p, 17p, and 18p may not be associated with significant clinical symptoms.
    Index Terms: Small supernumerary marker chromosomes (SMC)
  • Steinbach P, Djalali M, Hansmann I, Kattner E, Meisel-Stosiek M, Probeck H D, Schmidt A, Wolf M: The genetic significance of accessory bisatellited marker chromosome. Hum. Genet. 65:155-164, 1983. [PubMed: 6228512]
  • Steinbach P, Djalali M: Ineffectivity of accessory bisatellited marker chromosomes in inducting meiotic nondisjunction. Hum. Genet. 64:402-403, 1983. [PubMed: 6225724]
  • Thangavelu M, Pergament E, Espinosa R III, Bohlander S K: Characterization of marker chromosomes by microdissection and fluorescence in situ hybridization. Prenat. Diag. 14:583-588, 1994. [PubMed: 7971760]
    Case 1 and 2:
    47,XX,+mar - mother of case 2.&46,X,+mar.&mos46/47,+mar.
    The mother of case 2 had a normal phenotype. Case 1 was a twin and physically normal.
  • Toomey K E, Mohandas T K, Leisti J, Szalay G C, Kaback M M: Further delineation of the supernumerary chromosome in the cat-eye syndrome. Clin. Genet. 12:275-284, 1977. [PubMed: 412629]
    Case J. C. in this report.
    46,XX/47,XX,+mar or 46,XX/47,XX,t(?13;22)(?;q11).&"46,XX,/47,XX,t(?13;22)(?13pter -> ?13q11::22q11 -> 22pter)."
    Index Terms: Cat's eye syndrome
  • Tozzi C, Calvieri F, Alesi L, Neri G: "Multiple ""marker"" chromosomes: a novel cytogenetic finding in a patient with mental retardation and congenital anomalies." AJMG 29:353-359, 1988. [PubMed: 3354606]
    MIM#: 163950
  • Tsukahara M, Endo F, Aoki Y, Matsuo K, Kajii T: Familial supernumerary non-satellited microchromosome. Clin. Genet. 30:226-229, 1986. [PubMed: 3465488]
    A total of five cases, including a fetus were carriers for the extra chromosome.
    47,XX or XY,+mar.
    MIM#: 251100
  • Ventruto V, Cali A, Farina L, Festa B, Ricciardi I, Sebastio L: A case of hypogonadotrophic hypogonadism with anosmia (Kallmann''s syndrome) in a male, with familial incidence of a small metacentric chromosome (47,XY,mat?+). J. Med. Genet. 13:71-75, 1976. [PMC free article: PMC1013357] [PubMed: 1271431]
    47,XX,+mar.&47,XY,+der(mar)mat?.
    Index Terms: Gonadal dysgenesis ... hypogonadism,Hypogonadism,Kallmann syndrome
  • Ventruto V, Sebastio L, Sebastio G, DeMasi R V, Vota U, Farina L, Festa B: Leprechaunism with mosaicism 46,XX/47,XX extra ring chromosome. J. Med. Genet. 14:383-386, 1977. [PMC free article: PMC1013627] [PubMed: 592357]
  • Verma R S, Babu K A, Rosenfeld W, Jhaveri R C: Marker chromosome in cat eye syndrome. Clin. Genet. 27:526-528, 1985. [PubMed: 3859394]
    Index Terms: Cat's eye syndrome
  • Wagenbichler P, Golob E: Detection of sex-chromosome anomalies in newborn infants. Wien. Klin. Wochenschr. 87:126-130, 1975. [PubMed: 1130080]
    3184 male and 2900 female infants were screened for Y- and X-chromatin.
    Case 1692/II in this report.
    45,X,+ace.
    Case 969/II in this report.
    48,XXX,+mar.
  • Wang H S, Hunter A G W: "A supernumerary ""G""-like chromosome originating from a maternal 13;15 translocation in a nondysmorphic, retarded girl." Clin. Genet. 15:273-277, 1979. [PubMed: 105827]
    A retarded girl who had a severe seizure disorder and a few minor anomalies. Studies suggest that the supernumerary chromosome arose following a prezygotic maternal 13;15 translocation.,47,XX,+t dic(13;15)(13pter->13q11::15q14->15pter).
    Index Terms: Seizures
  • Wang H S, Hunter A G W: Supernumerary chromosome possibly representing segment p11 to q14 of chromosome 2. Ann. Genet. 22:148-150, 1979. [PubMed: 316669]
    Patient C. L. in this report was 17 years old.
    46,XX/47,XX,+mar or +2(:p11 -> q14:).
  • 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]
    Data on 377,357 amniocentesis were reported. A frequency of 1/2,500 of an extra structurally abnormal chromosome of unknown origin was encountered.,The risk of abnormality for extra nonsatellited marker chromosome was 14.7% (n=68) and that for satellited marker chromosomes was 10.9% (n=55).
  • Ward J, Sierra I A, D''Croz E: Cat eye syndrome associated with aganglionosis of the small and large intestine. J. Med. Genet. 26:647-648, 1989. [PMC free article: PMC1015718] [PubMed: 2585462]
    47,XY,+mar.
    Patient died at three months of age.
    Index Terms: Aganglionosis
  • Weleber R G, Walknowska J, Peakman D C: Cytogenetic investigation of cat-eye syndrome. Am. J. Opthal. 84:477-486, 1977. [PubMed: 410302]
    47,XX,+mar.&See entry of Magenis et al (1988) under 220000.
    MIM#: 115470
    Index Terms: Cat's eye syndrome
  • Williamson R A, Weiner C P, Patil S R, Benda J, Varner M W, Abu-Yousef M M: Abnormal pregnancy sonogram: selective indication for fetal karyotype. Obst. Gynecol. 69:15-20, 1987. [PubMed: 3540760]
    13 out of 41 fetuses had chromosome anomalies. Only seven survived.
  • Yip M Y, Mark J, Hulten M A: Supernumerary chromosomes in six patients. Clin. Genet. 21:397-406, 1982. [PubMed: 6957276]
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106451
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