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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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  • 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
  • Barker D, Green P, Knowlton R, Schumm J, Lander E, Oliphant A, Willard H, Akots G, Brown V, Gravius T, Helms C, Nelson C, Parker C, Rediker K, Rising M, Watt D, Weiffenbach B, Donis-Keller H: Genetic linkage map of human chromosome 7 with 63 DNA markers. PNAS 84:8006-8010, 1987. [PMC free article: PMC299465] [PubMed: 2891136]
    No band
  • Barker P E, Ruddle F H, Royer H D, Acuto O, Reinherz E L: Chromosomal location of human T-cell receptor gene T-i-beta. Science 226:348-349, 1984. [PubMed: 6435246]
    No band
  • Behrens F, Claussen U, Iyer L M, Green E D, Horsthemke B, Williamson R, huxley C, Coutelle C.: Isolation of DNA from the centromere of human chromosome 7 by microdissection. Chromosome Res. 5:215-220, 1997. [PubMed: 9244447]
    No band
  • Bernard L E, Pe+¦aherrera M S, Van Allen M I, Wang M S, Yong S-L, Gareis F, Langlois S, Robinson W P.: Clinical and molecular findings in two patients with Russell-Silver syndrome and UPD7: comparison with non-UPD7 cases. AJMG 87:230-236, 1999. [PubMed: 10564876]
    Kosaki K, Kosaki R, Robinson W P, Craigen W J, Shaffer L G, Sato S, Matsuo N.: Diagnosis of maternal uniparental disomy of chromosome 7 with a methylation specific PCR assay. J. Med. Genet. 37(9):e19, September 1, 2000. [PMC free article: PMC1734674] [PubMed: 10978366]
    2/21 RSS patients, RSS-11 and RSS-44, were identified to have maternal UPD7.
    These authors found that their patients with UPD7 and those previously published had a classical RSS phenotype and were not clinically distinguishable from other children diagnosed with RSS.
    Aberration: Uniparental disomy
    MIM#: 180860
    Index Terms: Russell-Silver syndrome
  • Bilimoria K Y, Rothenberg J M.: Prenatal diagnosis of a trisomy 7/maternal uniparental heterodisomy 7 mosaic fetus. AJMG DOI=10.1002/ajmg.a.10101;118A:60-63, 2003. [PubMed: 12605443]
    Amnio at 19+6 weeks=47,XX,+7[41%]/46,XX[19/32 colonies].,CVS at birth=47,XX,+7.,Cord blood=46,XX.
    Ultrasound examination and fetal echocardiography at 22+4 weeks showed heart anomalies.
    Maternal UPD was demonstrated by using markers: D7S481, D7S506, D7S518, D7S480, D7S500, and D7S550.
    Aberration: Uniparental disomy
  • Bruce S, Leinonen R, Lindgren C M, Kivinen K, Dahlman-Wright K, Lipsanen-Nyman M, Hannula-Jouppi K, Kere J.: Global analysis of uniparental disomy using high density genotyping arrays. J. Med. Genet. 42:847-851, 2005. [PMC free article: PMC1735941] [PubMed: 15879501]
    46,XX,upd(7)mat
    High density SNP arrays were used to confirm the diagnosis.
    Aberration: Uniparental disomy
    MIM#: 180860
  • Buhler E M: Unmasking of heterozygosity by inherited balanced translocations. Implications for prenatal diagnosis and gene mapping. Ann. Genet. 26:133-137, 1983. [PubMed: 6606374]
    Patient with hydranencephaly and t(7q;8p)mat; mother had four previous abortions and one healthy child.
    Aberration: Simple translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion),Hydranencephaly
    No band
  • Cuisset L, Le Stunff C, Dupont J M, Vasseur Ch, Cartigny M, Despert F, Delpech M, Bougnere P, Jeanpierre M.: PEG1 expression in maternal uniparental disomy 7. Ann. Genet. 40:211-215, 1997. [PubMed: 9526615]
    Two cases of mUPD 7 were studied.
    PEG1/MEST gene is mapped to 7q32.
    Aberration: Uniparental disomy
    Index Terms: PEG1/MEST
  • Daniel A, Malafiej P.: A series of supernumerary small ring marker autosomes identified by FISH with chromosome probe arrays and literature review excluding chromosome 15. AJMG 117A:212-222, 2003. [PubMed: 12599184]
    Case 4=47,XY,+r(7)de novo[100%].
    The patient had developmental delay.
    Aberration: Ring chromosome
  • Diedrich U, Hansmann I, Janke D, Opitz O, Probeck H D: Chromosome anomalies in 136 couples with a history of recurrent abortions. Hum. Genet. 65:48-52, 1983. [PubMed: 6642507]
    47,XX,cen fiss 7,(7p7p;7q7q).
    Aberration: Centromeric fission
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    No band
  • Eggerding F A, Schonberg S A, Chehab F F, Norton M E, Cox V A, Epstein C J: Uniparental isodisomy for paternal 7p and maternal 7q in a child with growth retardation. AJHG 55:253-265, 1994. [PMC free article: PMC1918369] [PubMed: 7913578]
    46,XX,i(7p)(pat),i(7q)(mat).
    Case was ascertained at amniocentesis.
    Aberration: IC,IS
    No band
  • Eggermann T, Wollmann H A, Kuner R, Eggermann K, Enders H, Kaiser P, Ranke M B. : Molecular studies in 37 Silver-Russell syndrome patients: frequency and etiology of uniparental disomy. Hum. Genet. 100:415-419, 1997. [PubMed: 9272165]
    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]
    Mergenthaler S, Wollmann H A, Burger B, Eggermann K, Kaiser P, Ranke M B, Schwanitz G, Eggermann T.: Formation of uniparental disomy 7 delineated from new cases and a UPD7 case after trisomy 7 rescue. Presentation of own results and review of the literature. Ann. Genet. 43:15-21, 2000. [PubMed: 10818216]
    Sharp A, Moore G, Eggermann T.: Evidence from skewed X inactivation for trisomy mosaicism in Silver-Russell syndrome. Europ. J. Hum. Genet. 2001, [PubMed: 11840189]
    The search for UPD7 should be restricted to patients with SRS and SRS-like features. Vice versa, SRS patients should only be screened for UPD7.
    A spontaneous abortion in the 8th week was studied.
    Placenta=47,XX,+7[22].,Fibroblasts=46,XX[20].
    58 SRS families were studied including 37 from the earlier published report.
    Aberration: Uniparental disomy
    MIM#: 180860
    Index Terms: Silver-Russell syndrome
  • Flori E, Girodon E, Samama B, Becmeur F, Viville B, Girard-Lemaire F, Doray B, Schluth C, Marcellin L, Boehm N, Goosens M, Pingault V.: Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung''s disease in a child with Silver-Russell syndrome. Europ. J. Hum. Genet. DOI=10.1038/sj.ejhg.5201442; 13:1013-1018, 2005. [PubMed: 15915162]
    Amnio=mos47,XY,+7[8/18 colonies]/46,XY[10/18 colonies].,After birth: Placenta=47,XY,+7[79%];blood & fibroblasts from umbilical cord=46,XY.,At 1 year of age fibroblasts froma recatl biopsy=47,XY,+7[15/100].,FISH with D7Z1=[ 4 and 5.5%].
    The patient was followed till 5 years old.
    The father shared no allele with his son.
    Aberration: Uniparental disomy
    Index Terms: Hirschsprung disease,Silver-Russell syndrome (SRS)
  • Fryns J P, Kleczkowska A, Limbos C, Vandecasseye W, Van den Berghe H: Centric fission of chromosome 7 with 47,XX,del(7)(pter to cen::q21 to qter)+cen fr karyotype in a mother and proximal 7q deletion in two malformed newborns. Ann. Genet. 28:248-250, 1985. [PubMed: 3879440]
    Patient W.S. died a few hours after birth.
    47,XX,del(7)(pter -> cen::q21 -> qter), cen fr.
    Aberration: Centromeric fission
    No band
  • Hannula K, Kere J, Pirinen S, Holmberg C, Lipsanen-Nyman M.: Do pateints with maternal uniparental disomy for chromosome 7 have a distinct mild Silver-Russell phenotype? J. Med. Genet. 38:273-278, 2001. [PMC free article: PMC1734847] [PubMed: 11370636]
    4/32 SRS patients studied were identified as having matUPD(7). The authors raise the possibility of a distinct phenotype, slightly milder.
    Aberration: Uniparental disomy
    MIM#: 180860
    Index Terms: Silver-Russell phenotype
    No band
  • Hansen S: A case of centric fission in man. Humangenetik 26:257-259, 1975. [PubMed: 1132882]
    47,XY,-7,+7p,+7q.&47,XY,-7,+7pter -> 7cen,+7qter -> 7cen.
    Aberration: Centromeric fission
    No band
  • Hassold T J: A cytogenetic study of repeated spontaneous abortions. AJHG 32:723-730, 1980. [PMC free article: PMC1686106] [PubMed: 7424911]
    46,XX,t(7;14).&"47,-7,+der(7),+der(14),t(7;14)mat."
    Aberration: Simple translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    No band
  • Hehr U, Dorr S, Hagemann M, Hansmann I, Preiss U, Bromme S.: Silver-Russell syndrome and Cystic Fibrosis associated with maternal uniparental disomy 7. AJMG 91:237-239, 2000. [PubMed: 10756351]
    Aberration: Uniparental disomy
    Index Terms: Silver-Russell syndrome,Cystic Fibrosis
    No band
  • Hillier L W, Fulton F S, Fulton L A, Graves T A, Pepin K H, Wagner-McPherson C, Layman D, Maas J, Jaeger S, Walker R, Wylie K, Sekhon M, Becker M C, O''Laughlin M D, Schaller M E, Fewell G A, Delehaunty K D, Miner T L, Nash W E, Cordes M, Du H, Sun H, Edwards, J, Bradshaw-Cordum H, Ali J, Andrews S, Isak A, Vanbrunt A, Nguyen C, Du F, Lamar B, Courtnet L, Kalicki J, Ozersky P, Bielicki L, Scott K, Holmes A, Harkins R, Harris A, Madsen Strong C, Hou S, Tomlinson C, Dauphin-Kohlberg S, Kozlowicz-Reilly A, Leonard S, Rohlfing T, Rock S M, Tin-Wollam A-M, Abbott A, Minx P, Maupin R, Strowmatt C, Latreille P, Miller N, Johnson D, Murray J, Woessner J P, Wendel M C, Yang S-P, Schultz B R, Wallis J W, Spieth J, Bieri T A, Nelson J O, Berkowicz N, Wohldmann P E, Cook L L, Hickenbotham M T, Eldred J, Williams D, Bedell J A, Mardis E R, Clifton S W, Chissoe S L, Marra M A, Raymond C, Haugen E, Gillett W, Zhou Y, James R, Phelps K, Iadanoto S, Bubb K, Simms E, Levy R, Clendenning J, Kaul R, Kent W J, Furey T S, Baertsch R A, Brent M R, Keibler E, Flicek P, Bork P, Suyama M, Bailey J A, Portnoy M E, Torrents D, Chinwalla A T, Gish W R, Eddy S R, McPherson J D, Olson M V, Eichler E E, Green E D, Waterston R H, Wilson R K. : The DNA sequence of human chromosome 7. Nature 424:157-164, 2003. [PubMed: 12853948]
    Scherer S W, Green E D.: Human chromosome 7 circa 2004: a model for structural and functional studies of the human genome. Hum. Mol. Genet. 13: R303-R313, 2004. [PubMed: 15358738]
    Index Terms: Chromosome 7 DNA sequence
  • Hoglund P, Holmberg C, de la Chapelle A, Kere J.: Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea. AJHG 55:747-752, 1994. [PMC free article: PMC1918292] [PubMed: 7942853]
    Patient LGL4588:
    46,XX with no maternal 7.
    Aberration: Isodisomy
    MIM#: 214700
    Index Terms: Congenital chloride diarrhea
    No band
  • Hustinx T W J, Scheres J M J C, Weemaes C M R, ter Haar B G A, Janssen A H: Karyotype instability with multiple 7/14 and 7/7 rearrangements. Hum. Genet. 49:199-208, 1979. [PubMed: 468251]
    No band
  • Janke D: Centric fission of chromosome No. 7 in three generations. Hum. Genet. 60:200-201, 1982. [PubMed: 7076262]
    Aberration: Centromeric fission
    No band
  • Kotzot D, Balmer D, Baumer A, Chrzanowska K, Hamel B C J, Ilyina H, Krajewska-Walasek M, Lurie I W, Otten B J, Schoenle E, Tariverdian G, Schinzel A.: Maternal uniparental disomy 7 - review and further delineation of the phenotype. Eur. J. Ped. 159:247-256, 2000. [PubMed: 10789928]
    Kotzot D, Schmitt S, Bernasconi F, Robinson W P, Lurie I W, Ilyina H, Mehes K, Hamel B C J, Otten B J, Hergersberg M, Werder E, Schoenle E, Schinzel A.: Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation. Hum. Mol. Genet. 4:583-587, 1995. [PubMed: 7633407]
    Kotzot D.: Reply-Mental retardation, developmental delay, and partial psychomotor deficits in maternal uniparental disomy 7. Europ. J. Pediat. 12:930, 2000.
    Kotzot D.: Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements. J. Med. Genet. 38:497-507, 2001. [PMC free article: PMC1734925] [PubMed: 11483637]
    Kotzot D.: Review and meta-analysis of systematic searches for uniparental disomy (UPD) other than UPD 15. AJMG 111:366-375, 2002. [PubMed: 12210294]
    Kotzot D.: Maternal uniparental disomy 7 and Silver-Russell syndrome--Clinical update and comparison with other subgroups. Europ. J. Med. Genet. 51: 444-451, 2008. [PubMed: 18655849]
    Kotzot (2000) concludes that the knowledge of psychomotor development in maternal UPD 7 is insufficient at this time.
    35 families with SRS or PGR were studied.
    upd(7)mat. Three with isodisomy and one with heterodisomy.
    Aberration: UPD,IS
    MIM#: 180860
    Index Terms: Silver-Russell syndrome,Growth retardation primordial
  • Le Caignec C, Isidor B, de Pontbriand U, David V, Audrezet M-P, Ferec C, David A.: Third case of paternal isodisomy for chromosome 7 with cystic fibrosis: a new patient presenting with normal growth. AJMG Part A: 143A: 2696-2699, 2007. [PubMed: 17935233]
    46,XX,upd(7)pat
    The patient with CF and normal growth was 3 years old.
    Aberration: Uniparental disomy
    Index Terms: Cystic fibrosis
  • Miyoshi O, Kondoh T, Taneda H, Otsuka K, Matsumoto T, Niikawa N.: 47,XX,UPD(7)mat,+r(7)pat/46,XX,UPD(7)mat mosaicism in a girl with Silver-Russell syndrome (SRS): possible exclusion of the putative SRS gene from a 7p13-q11 region. J. Med. Genet. 36:326-329, 1999. [PMC free article: PMC1734347] [PubMed: 10227403]
    Miyoshi O.: Reply J. Med. Genet. 37:380, 2000.
    Wakeling E L, Hitchins M, Stanier P, Monk D, Moore G E, Preece M A.: Silver-Russell syndrome and ring chromosome 7. J. Med. Genet. 37:380, 2000. [PMC free article: PMC1734598] [PubMed: 10905891]
    Patient was a 20 months old Japanese girl.
    47,XX,UPD(7)mat,+r(7)pat[15]/46,XX,UPD(7)mat[30]
    Aberration: UPD,RI
    MIM#: 180860
    Index Terms: Silver-Russell syndrome
  • Niikawa N, Ishikawa M: Whole-arm translocation between homologous chromosomes 7 in a woman with successive spontaneous abortions. Hum. Genet. 63:85-86, 1983. [PubMed: 6832784]
    46,XX,t(7;7)(pter -> p11::q11 -> pter;qter -> q11::p11 -> qter).
    Aberration: Whole-arm translocations
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    No band
  • Pan Y, McCaskill C D, Thompson K H, Hicks J, Casey B, Shaffer L G, Craigen W J.: Paternal isodisomy of chromosome 7 associated with complete situs inversus and immotile cilia. AJHG 62:1551-1555, 1998. [PMC free article: PMC1377136] [PubMed: 9585585]
    Patient CC:
    46,XY,upd(7)pat
    Cystic fibrosis, complete situs inversus, and upd(7)pat was confirmed.
    Aberration: Isodisomy
    Index Terms: Kartagener syndrome,Complete situs inversus,Immotile cilia syndrome
  • Potgieter S, Matthijs G, De Cock P, Fryns J-P.: Preaxial polydactyly type 1 and severe language deficit in maternal uniparental disomy of chromosome 7. Europ. J. Pediat. 159:929, 2000. [PubMed: 11131354]
    46,XY,upd(7)mat
    The 4-year-old boy had marked language delay. He had a preaxial polydactyly type 1 of his left thumb. He had short stature and a large head.
    Aberration: Uniparental disomy
    MIM#: 602081
    No band
  • Preece M A, Abu-Amero S N, Ali Z, Abu-Amero K K, Wakeling E L, Stanier P, Moore G E.: An analysis of the distribution of hetero- and isodisomic regions of chromosome 7 in five mUPD7 Silver-Russell syndrome probands. J. Med. Genet. 36:457-460, 1999. [PMC free article: PMC1734382] [PubMed: 10874633]
    Preece M A, Price S M, Davies V, Clough L, Stanier P, Trembath R C, Moore G E.: Maternal uniparental disomy 7 in Silver-Russell syndrome. J. Med. Genet. 34:6-9, 1997. [PMC free article: PMC1050838] [PubMed: 9032641]
    Price S M, Stanhope R, Garrett C, Preece M A, Trembath R C.: The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria. J. Med. Genet. 36:837-842, 1999. [PMC free article: PMC1734267] [PubMed: 10544228]
    It is suggested that imprinted gene(s) rather than recessive mutations cause the common phenotype and maternal MI is the non-disjunction error. 7/42 were identified with upd(7)m by Price at al (1999).
    Aberration: Uniparental disomy
    MIM#: 180860
    Index Terms: Silver-Russell syndrome
  • Scherer S W, Cheung J, MacDonald J R, Osborne L R, Nakabayashi K, Hebrrick J-A, Carson A R, Parker-Katiraee L, Skaug J, Khaja R, Zhang J, Hudek A K, Li M, Haddad M, Duggan G E, Fernandez B A, Kanematsu E, Gentles S, Christopoulos C C, Choufani S, Kwasnicka D, Zheng X H, Lai Z, Nusskern D, Zhang Q, Gu Z, Lu F, Zeesman S, Nowaczyk M J, Teshima I, Chitayat D, Shuman C, Weksberg R, Zackai E H, Grebe T A, Cox S R, Kirkpatrick S J, Rahman N, Friedman J M, Heng H H Q, Pelicci P G, Lo-Coco F, Belloni E, Shaffer L G, Pober B, Morton C C, Gusella J F, Bruns G A P, Korf B R, Quade B J, Ligon A H, Ferguson H, Higgins A W, Leach N T, Herrick S R, Lemrye E, Farra C G, Kim H-G, Summers A M, Gripp K W, Roberts W, Szatmari P, Winsor E J T, Grzeschik K-H, Teebi A, Minassian B A, Kere J, Armengol L, Pujana M A, Estivill X, Wilson M D, Koop B F, Tosi S, Moore G E, Boright A P, Zlotorynski E, Kerem B, Kroisel P M, Petek E, Oscier D G, Mould S J, Dohner H, Dohner K, Rommens J M, Vincent J B, Venter J C, Li P W, Mural R J, Adams M D, Tsui L-C. : Human chromosome 7: DNA sequence and biology. Science 300:767-772; DOI=10.1126/science.1083423, 2003. [PMC free article: PMC2882961] [PubMed: 12690205]
    No band
  • Sparkes R S, Mohandas T K, Sparkes M C: The human phosphoserine phosphatase gene is mapped to chromosome 7 by somatic cell genetic analysis. Cytogenet. Cell Genet. 35:70-71, 1983. [PubMed: 6297855]
    No band
  • Spence J E, Perciaccante R G, Greig G M, Willard H F, Ledbetter D H, Hejtmancik J F, Pollack M S, O''Brien W E, Beaudet A L: Uniparental disomy as a mechanism for human genetic disease. AJHG 42:217-226, 1988. [PMC free article: PMC1715272] [PubMed: 2893543]
    Patient A. B. It is hypothesized that the patient received both of her chromosome 7s from her mother.
    Aberration: Uniparental disomy
    MIM#: 219700
    Index Terms: Uniparental,Disomic
    No band
  • Spotila L D, Sereda L, Prockop D J: Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COLIA2 locus. AJHG 51:1396-1405, 1992. [PMC free article: PMC1682915] [PubMed: 1463018]
    Vianna-Morgante A M, and The Human Cytogenetic study group.: The ratio of maternal to paternal UPD associated with recessive diseases. Hum. Genet. 117:288-290, 2005. [PubMed: 15895256]
    Patient was 30 years old.
    The proband''s height was 4''7", homozygous for a mutation in the COLIA2 gene for type I procollagen, and heterozygous for an RFLP at the IGBP-1 locus at 7p13-p12.
    It is suggested that the isodisomy was not complete because of a recombination event involving the proximal short arm of maternal chromosomes. The phenotype of proportional dwarfism in the proband suggests imprinting of one or more growth-related genes on chromosome 7.
    Aberration: Isodisomy
    Index Terms: Isodisomy
  • Tan-Sindhunata G, Castedo S, Leegte B, Mulder I, vd Veen A Y, vd Hout A H, Wiersma T J, van Essen A J.: Molecular cytogenetic characterization of a small familial supernumerary ring chromosome 7 associated with mental retardation and an abnormal phenotype. AJMG 92:147-152, 2000. [PubMed: 10797441]
    A mother and her two children with borderline intelligence are described.
    Aberration: Ring chromosome
  • Tho S P T, Byrd J R, McDonough P G: Chromosome polymorphism in 110 couples with reproductive failure and subsequent pregnancy outcome. Fert. Ster. 38:688-694, 1982. [PubMed: 7141010]
    Case 17.
    46,XY,t(7;16)(7q16p;7p16q).
    Aberration: Whole-arm translocations
    No band
  • Velagaleti G V N, Jalal S M, Kukolich M K, Lockhart L H, Tonk V S.: De novo supernumerary ring chromosome 7: first report of a non-mosaic patient and review of the literature. Clin. Genet. 61:202-206, 2002. [PubMed: 12000362]
    47,XY,+mar.ish(7)
    The 12 year old patient was referred for evaluation of speech delay and dysmorphic features.
    Aberration: Ring chromosome
  • Voss R, Ben-Simon E, Avital A, Godfrey S, Zlotogora J, Dagan J, Tikochinski Y, Hillel J: Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans. AJHG 45:373-380, 1989. [PMC free article: PMC1683410] [PubMed: 2570528]
    46,XY,isodisomic (7)mat.
    Patient was short and had cystic fibrosis.
    Nonpaternity was excluded. Events leading to this isodisomy involve at least two events of abnormal cell division. A centromeric heteromorphism was present in the chromosome 7.
    Aberration: IS,MA
    MIM#: 219700
    Index Terms: Isodisomy
  • Yamazawa K, Kagami M, Ogawa M, Horikawa R, Ogata T.: Placental hypoplasia in maternal uniparental disomy for chromosome 7. AJMG Part A: 146A: 514-516, 2008. [PubMed: 18203162]
    3 cases are reported
    Aberration: Uniparental disomy
    Index Terms: Placental hypoplasia
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106909
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