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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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  • Balmer D, Baumer A, Rothlisberger B, Schinzel A.: Severe intra-uterine growth retardation in a patient with maternal uniparental disomy 22 and a 22-trisomic placenta. Prenat. Diag. 19:1061-1064, 1999. [PubMed: 10589061]
    MCA were noted at one month of chronological age examination birth along with IUGR including hypospadias.
    Aberration: Uniparental disomy
  • Blancato J K.: Letters to the Editor Prenat. Diag. 16:769, 1996. [PubMed: 8878290]
    Tardy E P, Toth A.: Cross-hybridization of the chromosome 13/21 alpha satellite DNA to chromosome 22 or a rare polymorphism? Prenat. Diag. 17:487-488, 1997. [PubMed: 9178328]
    Verlinsky Y, Ginsberg N, Chmura M, Freidine M, White M, Strom C, Kuliev A.: Cross-hybridization of the chromosome 13/21 alpha satellite DNA probe to chromosome 22 in the prenatal screening of common chromosomal aneuploidies by FISH. Prenat. Diag. 15:831-834, 1995. [PubMed: 8559753]
    D13/21Z1 alpha satellite DNA probe from Oncor was used.

    Verlinsky Y, Strom C M.: Authors'' reply. Prenat. Diag. 16:769-770, 1996.
    Aberration: Marker chromosome
    No band
  • Crandall B F, Weber F M, Muller H M, Burwell J K: Identification of 21r and 22r chromosomes by quinacrine fluorescence. Clin. Genet. 3:264-270, 1972. [PubMed: 5054320]
    Case No. 2 (AK 100751) and Case No. 3 (MR 211159) in this report.
    Aberration: Ring 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 12.
    mos46,XY/47,XY,+mar(22)de novo.
    Case 13.
    47,XX,+mar(22)de novo.
    Attempt has been made to correlate the physical findings with the chromosomal abnormality.
    No band
  • Doneda L, Dalpra L, Tibiletti M G, Larizza L: Prenatal diagnosis of an extranumerary i(22p) with normal phenotype. Ann. Genet. 36:154-158, 1993. [PubMed: 8117060]
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 22p+
    No band
  • Dunham I, Hunt A R, Collins J E, Bruskiewich R, Beare D M, Clamp M, Smink L J, Ainscough R, Almeida J P, Babbage A, Bagguley C, Bailey J, Barlow K, Bates K N, Beasley O, Bird C P, Blakey S, Bridgeman A M, Buck D, Burgess J, Burrill W D, Burton J, Carder C, Carter N P, Chen Y, Clark G, Clegg S M, Cobley V, Cole C G, Collier R E, Connor R E, Conroy D, Corby N, Coville G J, Cox A V, Davis J, dawson E, Dhami P D, Dockree C, Dodsworth S J, Durbin R M, Ellington A, Evans K L, Fey J M, Fleming K, French L, Garner A A, Gilbert J G R, Goward M E, Grafham D, Griffiths M N, Hall C, Hall R, Hall-Tamlyn G, Heathcott R W, Ho S, Holmes S, Hunt S E, Jones M C, Kershaw J, Kimberley A, King A, Laird G K, Langford C F, Leversha M A, Lloyd C, LLoyd D M, Martyn I D, Mashreghi-Mohammadi M, Matthews L, McCann O T, McClay J, McLaren S, McMurray A A, Milne S A, Mortimore B J, Odell C N, Pavitt R, Pearce A V, Pearson D, Phillimore B J, Phillips S H, Plumb R W, Ramsay H, Ramsey Y, Rogers L, Ross M T, Scott C E, Sehra H K, Skuce C D, Samlley S, Smith M L, Soderlund C, Spragon L, Steward C A, Sulston J E, Swann R M, Vaudin M, Wall M, Wallis J M, Whiteley M N, Willey D, Willimas L, Willimas S, Williamson H, Wilmer T E, Wilming L, Wright C L, Hubbard T, Bentley D R, Beck S, Rogers J, Shimizu N, Minoshima S, Kawasaki K, Sasaki T, Asakawa S, Kudoh J, Shintani A, Shibuya K, Yoshizaki Y, Aoki N, Mitsuyama S, Roe B A, Chen F, Chu L, Crabtree J, Deschamps S, Do A, Do T, Dorman A, Fang F, Fu Y, Hu P, Hua A, Kenton S, Lai H, Lao H I, Lewis J, Lewis S, Lin S -P, Loh P, Malaj E, Nguyen T, Pan H, Phan S, Qi S, Qian Y, Ray L, Ren Q, Shaull S, Sloan D, Song L, Wang Q, Wang Y, Wang Z, White J, Willingham D, Wu H, Yao Z, Zhan M, Zhang G, Chissoe S, Murray J, Miller N, Minx P, Fulton R, Johnson D, Bemis G, Bentley D, Bradshaw H, Bourne S, Cordes M, Du Z, Fulton L, Goela D, Graves T, hawkins J, Hinds K, Kemp K, Latreille P, Layman D, Ozersky P, Rohlfing T, Scheet P, Walker C, Wamsley A, Wohldmann P, Pepin K, Nelson J, Korf I, Bedell J A, Hillier L, Mardis E, Waterston R, Wilson R, Emanuel B S, Shaikh T, Kurahashi H, Saitta S, Budarf M L, McDermid H E, Johnson A, Wong A C C, Morrow B E, Edelmann L, Kim U J, Shizuya H, Simon M I, Dumanski J P, Peyrard M, Kedra D, Seroussi E, Fransson I, Tapia I, Bruder C E, O''Brien K P. : The DNA sequence of human chromosome 22. Nature 402:489-495, 1999. [PubMed: 10591208]
    Matise T C, Porter C J, Buyske S, Cuttichia A J, Sulman E P, White P S.: Systematic evaluation of map quality: human chromosome 22. AJHG DOI=0002-9297/2002/7006;70:1398-1410, 2002. [PMC free article: PMC379125] [PubMed: 11992248]
    Tapper W J, Ke X, Morton N E, Collins A.: Recombination, interference and sequence: comparison of chromosomes 21 and 22. Ann. Hum. Genet. 66:75-86, 2002. [PubMed: 12015002]
    There is less recombination in males than in females and is associated with GT/CA repeats
    This team of authors reports the sequence of the euchromatic part of chromosome 22. It consists of 12 contiguous segments spanning 33.4 megabases, contains at least 545 genes and 134 pseudogenes.
    Index Terms: DNA sequence chromosome 22
  • Farah L M S, Nazareth H R de S, Doenikoff M, Delascio D: Balanced homologous translocation t(22q22q) in a phenotypically normal woman with repeated spontaneous abortions. Humangenetik 28:357-360, 1975. [PubMed: 1176128]
    Case M.A.F. in this report.
    Aberration: Robertsonian translocations
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    No band
  • Fisher R A, Povey S, Bobrow M, Solomon E, Boyd Y, Carritt B: Assignment of the DIA-1 locus to chromosome 22. Ann. Hum. Genet. 41:151-155, 1977. [PubMed: 596823]
    MIM#: 250800
    No band
  • Fryns J P, Jaeken J, Van den Berghe H: Partial trisomy 22q with elevated arylsulfatase - A activity. Ann. Genet. 22:168-170, 1979. [PubMed: 43111]
    MIM#: 250100
    No band
  • Fryns J P, van den Berghe H: "Ring chromosome 22 in a mentally retarded child and mosaic 45,XX,-15,-22,+t(15;22)(p11;q11)/46,XX,r(22)/46,XX karyotype in the mother." Hum. Genet. 47:213-216, 1979. [PubMed: 437787]
    Patient JJ examined at 3 years of age showed severe mental retardation, hypotonia, and minor craniofacial stigmata. It is likely that the breakpoints of chromosomes are incorrectly interpreted. If the 15;22 translocation event is related to ring (22) formation the break probably occurred at 22p11 since the ring had a centromere.
    Aberration: Ring chromosome
    Index Terms: Facial dysmorphism,Hypotonia
    No band
  • Geurts van Kessel A H M, Westerveld A, de Groot P G, Meera Khan P, Hagemeijer A: Regional localization of the genes coding for human ACO2, ARSA, and NAGA on chromosome 22. Cytogenet. Cell Genet. 28:169-172, 1980. [PubMed: 7192199]
    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]
    Four cases: 531, 36319, 39906, and 45539:
    47,XX or XY,+mar.
    Normal appearance in three cases except in No. 531 who had hypertelorism, flat nasal bridge, and normal IQ at 20.
    No band
  • Same entry as in 130000,140000,150000,210000 (Jacobs et al, 1974).

  • Kaplan J C, Aurias A, Julier C, Prieur M, Szajnert M F: Human chromosome 22. J. Med. Genet. 24:65-78, 1987. [PMC free article: PMC1049892] [PubMed: 3550088]
    A review of data on gene loci and their role.
    No band
  • Maeda T, Ohno M, Shimada N, Nishida H, Jobo T: A 22/22 translocation carrier with recurrent abortions demonstrated by a Giemsa banding technique. Hum. Genet. 31:243-245, 1976. [PubMed: 1248834]
    45,XX,t(22q22q).&46,XX,-22,+der(22)t(22qter -> cen -> 22qter)mat.&The aborted fetus was found -> have this karyotype. Studies from embryonic tissue.
    Aberration: Robertsonian translocations
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    No band
  • Magenis R E, Sheehy R R, Brown M G, McDermid H E, White B N, Zonana J, Weleber R: Parental origin of the extra chromosome in the cat eye syndrome: Evidence from heteromorphism and in situ hybridization analysis. AJMG 29:9-19, 1988. [PubMed: 3344779]
    Patients K.N. and S.B.R. and their families were studied. Probe p22/34 was used.
    47,XX or XY,+der(22)mat.
    MIM#: 115470
    Chromosomal Aneuploidy: 22+
    Index Terms: Cat's eye syndrome
    No band
  • Mameli M, Cardia S, Milia A, Seabright M: "A further case of a 22;22 Robertsonian translocation associated with recurrent abortions." Hum. Genet. 41:359-361, 1978. [PubMed: 565744]
    A man whose karyotype was 45,XY,rob(22;22) was karyotyped because of wife''s history of (five) recurrent abortions.
    Aberration: Robertsonian translocations
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    No band
  • Palmer C G, Schwartz S, Hodes M E: "Transmission of a balanced homologous t(22q;22q) translocation from mother to normal daughter." Clin. Genet. 17:418-422, 1980. [PubMed: 7398113]
    Aberration: Robertsonian translocations
    No band
  • Smith G F, Sachdeva S, Janakiraman N, Sinha S: Chromosomal abnormality associated with congenital macroglossia and other abnormalities. J. Med. Genet. 11:406-410, 1974. [PMC free article: PMC1013220] [PubMed: 4443993]
    Aberration: Simple translocation
    Index Terms: Macroglossia
    No band
  • Spinner N B, Gibas Z, Kline R, Berger B, Jackson L G: "Placental mosaicism in a case of 46,XY,-22,+t(22;22)(p11;q11) or i(22q) diagnosed at amniocentesis." Prenat. Diag. 12:47-51, 1992. [PubMed: 1557310]
    Placenta:mos46,XY/46,XY,-22,+t(22;22)(p11;q11) or i(22q).&"Amniotic fluid:46,XY,-22,+t(22;22)(p11;q11) or i(22q)."
    Amniocentesis was performed because a large cystic hygroma was detected on ultrasound examination at 18 weeks.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 22q+
    Index Terms: Placenta ... mosaicism
    No band
  • Stetten G, Blakemore K J, Courter A M, Coss C A, Jabs E W: Prenatal identification of small mosaic markers of different chromosomal origins. Prenat. Diag. 12:83-91, 1992. [PubMed: 1372733]
    Case 2.
    47,XY,+marker 22.
    Clinical outcome was normal.
    Index Terms: Small marker chromosomes
    No band
  • Thangavelu M, Chen P X, Pergament E.: Hybridization of chromosome 18 alpha-satellite DNA probe to chromosome 22. Prenat. Diag. 18:922-925, 1998. [PubMed: 9793974]
    Verma R S.: Evolution of the centromeric alpha-satellite DNA sequences of human chromosome 22. Prenat. Diag. 19:590-591, 1999. [PubMed: 10416981]
    Aberration: Marker chromosome
  • White E J, Emanuelsson O, Scalzo D, Royce T, Kosak S, Oakeley E J, Weissman S, Gerstein M, Groudine M, Snyder M, Schubeler D.: DNA replication-timing analysis of human chromosome 22 at high resolution and different developmental states. PNAS 101:17771-17776, 2004. [PMC free article: PMC539744] [PubMed: 15591350]
    Index Terms: DNA-replication-timing
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106935


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