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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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  • Anneren G, Frykberg T, Gustavson K H: A boy with true hermaphroditism and sex chromosome mosaicism and a fertile woman with Turner mosaicism in a family with a translocation 8p:19p. Clin. Genet. 20:289-295, 1981. [PubMed: 7333022]
    Case 1.
    Case 2.
    Index Terms: Chimera,Hermaphrodism ... true,Turner syndrome
  • Battey D A, Bird G W G, McDermott A, Mortimer C W, Mutchinick O M, Wingham J: Another human chimaera. J. Med. Genet. 11:283-287, 1974. [PMC free article: PMC1013144] [PubMed: 4139261]
    Index Terms: Chimera
  • Benirschke K, Naftolin F, Gittes R, Khodr G S, Yen S S C, Allen F H: True hermaphroditism and chimerism. Am. J. Obst. Gynecol. 113:449-458, 1972. [PubMed: 4673922]
    Patient Ophelia S. (U-411417) in this report.
    Index Terms: Chimera,Hermaphrodism ... true
  • Benirschke K: Chimerism, mosaicism and hybrids. In Human Genetics, Proc. Fourth Int''l. Cong. Hum. Genet., de Grouchy, J, F J G Ebbing and I W Henderson, Editors: Excerpta Medica, Amsterdam :212-231, 1972.
    Benirschke K: Hermaphrodites, freemartins, mosaics and chimaeras in animals. In Austin, C R and R G Edwards, Editors. Mechanisms of sex differentiation in animals and man. Academic Press :421-462, 1981.
    46,XX/46,XY chimera.
    Index Terms: Chimera
  • Boklage C E.: Embryogenesis of chimeras, twins and anterior midline asymmetries. Hum. Reprod. 21:579-591, 2006. [PubMed: 16253966]
    A good review.
  • Bonthron D T.: XX/XY chimaerism after IVF. Prenat. Diag. 24:578, 2004. [PubMed: 15300756]
    Strain L, Dean J C S, Hamilton M P R, Bonthron D T.: A true hermaphrodite chimera resulting from embryo amalgamation after in vitro fertilization. NEJM 338:166-169, 1998. [PubMed: 9428825]
    The boy, resulting from an amalgamation of two different embryos each derived from an independent, separately fertilized ovum, was developing normally.
    Surgical intervention was necessary.
    Index Terms: IVF-Chimera
  • Bourthoumieu S, Esclaire F, Yardin C.: Chimerism in twins: caution is needed in interpretation of karyotypes. AJMG DOI=10.1002/ajmg.a.31111; 140A:533-535, 2006. [PubMed: 16470796]
  • Bourthoumieu S, Yardin C, Terro F, Gilbert B, Laroche C, Saura R, Vincent M-C, Esclaire F.: Monozygotic twins concordant for blood karyotype, but phenotypically discordant: a case of "mosaic chimerism". AJMG DOI=10.1002/ajmg.a.30674, 2005. [PubMed: 15832362]
    Both twins in Blood=46,XX,dup(11)(p12p15)/46,XX abnormal cells 16% and 17%.,FISH analysis on buccal smear and urinary sediment showed 68% abnormal cells in only one twin.
    Twin-to-twin transfusion syndrome is thought to be the cause for the phenotypic differences: twin 2 is healthy and an engineer; twin 1 is presented with mental delay, and dysmorphic features.
    Index Terms: MZ and mosaic chimera
  • Brenan P, Hall C.: Osteocraniostenosis in a fetus with a 46,XX/46,XY karyotype. Clin. Dysmorph. 11:57-61, 2002. [PubMed: 11822707]
    Chondrocytes cultured=46,XY[15]/46,XX[2].,Skin fibroblasts=46,XY[17]/46,XX[3].
    MIM#: 602361
    Index Terms: Osteocraniostenosis
  • Buyse M, Fordeny-Settlage D, Towner J W, Wilson M G: True hermaphroditism with 46,XX and 47,XYY cell lines. Clin. Res. 23:144A, 1975.
    46,XX/47,XYY.,Findings in this patient are consistent with either chimerism or mosaicism.
    Index Terms: Chimera,Hermaphrodism ... true
  • de la Chapelle A, Schroder J, Rantanen P, Thomasson B, Niemi M, Tiilikainen A, Sanger R, Robson E B: Early fusion of two human embryos? Ann. Hum. Genet. 38:63-75, 1974. [PubMed: 4460866]
    Evidence of two gametic contributions from both mother and father is based on findings on red-cell antigens, red-cell enzyme types, HL-A antigens and chromosomal markers.
    Index Terms: Chimera
  • De Marchi M, Carbonara A O, Carozzi F, Massara F, Belforte L, Molinatti G M, Bisbocci D, Passarino M P, Palestro G: True hermaphroditism with XX/XY sex chromosome mosaicism: report of a case. Clin. Genet. 10:265-272, 1976. [PubMed: 991437]
    Studies on a 12-year-old patient are described. The 12-year-old propositus, reared as a male, showed ambiguous external genitalia with perineoscrotal hypospadias, and internal genitalia represented by bilateral ovotestes, normal uterus and tubes.
    Index Terms: Chimera,Genitalia ... ambiguous,Hermaphrodism ... true,Hypospadias,Ovotestis
  • De Moor G, De Bock G, Noens L, De Bie S: A new case of human chimerism detected after pregnancy: 46,XY karyotype in the lymphocytes of a woman. Acta Clin. Belg. 43:231-235, 1988. [PubMed: 3414310]
    Patient was 19 years old, had delivered a stillborn child; and had a twin brother.
    A very interesting and well worked up case report.
  • Dewald G W, Haymond M W, Spurbeck J L, Moore S B: Origin of chi 46,XX/46,XY chimerism in a human true hermaphrodite. Science 207:321-323, 1980. [PubMed: 7350665]
    Index Terms: Chimera,Hermaphrodism ... true
  • Falik-Borenstein T C, Korenberg J R, Schreck R R: Confined placental chimerism: prenatal and postnatal cytogenetic and molecular analysis, and pregnancy outcome. AJMG 50:51-56, 1994. [PubMed: 8160753]
    chi46,XX/47,XY,+9 - CVS.
    A normal appearing female child was delivered. Amniotic fluid showed normal female chromosomes. Amnion and placental tissue showed chimeric makeup.
  • Farag T I, Al-Awadi S A, Tippett P, El-Sayed M, Sundareshan T S, Al-Othman S A, El-Badramany M H: Unilateral true hermaphrodite with 46,XX/46,XY dispermic chimerism. J. Med. Genet. 24:784-786, 1987. [PMC free article: PMC1050410] [PubMed: 3430558]
    Patient born on 150872 was 12 years old.
    Index Terms: Chimera,Hermaphrodism ... true
  • Farber C M, Georges M, DeBock G, Verhest A, Simon P, Verschraegen-Spae M, Vassart G: Demonstration of spontaneous XX/XY chimerism by DNA fingerprinting. Hum. Genet. 82:197-198, 1989. [PubMed: 2722198]
  • Fitzgerald P H, Donald R A, Kirk R L: A true hermaphrodite dispermic chimera with 46,XX and 46,XY karyotypes. Clin. Genet. 15:89-96, 1979. [PubMed: 759058]
    Finding on a 16-year-old male is reported here.
    Index Terms: Chimera,Hermaphrodism ... true
  • Freiberg A S, Blumberg B, Lawce H, Mann J: XX/XY chimerism encountered during prenatal diagnosis. Prenat. Diag. 8:423-426, 1988. [PubMed: 3211844]
    A normal male phenotype.
    Claimed to be the first postnatally documented prenatal diagnosis of whole-body 46,XX/46,XY chimera discovered by maternal age amniocentesis.
  • Froesch P, Schonle E, Froesch E R: Ein patient mit 46,XX/46,XY-Chimarismus ohne Hermaphroditismus. Schweiz. Med. Wschr. 113:1065-1067, 1983. [PubMed: 6623025]
    Index Terms: Chimera
  • Fryns J P, Haspeslagh M, Vandenbussche E, Goddeeris P, Eggermont E, van den Berghe H: Perinatal mortality and XY/XX mosaicism. Report of two patients. Hum. Genet. 56:225-226, 1980. [PubMed: 7450779]
    Fryns J P, Moerman P: 46,XY/46,XX mosaicism and congenital pulmonary lymphangiectasis with chylothorax. AJMG 47:934-935, 1993. [PubMed: 8279494]
    Case 1., G. R. in this report.
    chi 51 cells 46,XX/8 cells 46,XY.
    Case 2., L. D. in this report.
    chi 47 cells 46,XY/10 cells 46,XX.
    The third patient died 15 hours after birth.
    Index Terms: Chimera,Perinatal death,Chylothorax,Congenital pulmonary lymphangiectasis
  • Gencik A, Gencikova A, Hrubisko M, Mergancova O: Chimerism 46,XX/46,XY in a phenotypic female. Hum. Genet. 55:407-408, 1980. [PubMed: 7203474]
    Patient D. R., 000047, with normal phenotype except mammary hypoplasia and sterility.
    Index Terms: Chimera,Sterility
  • Iselius L, Lambert B, Lindsten J, Tippett P, Gavin J, Daniels G, Yates A, Ritzen M, Sandstedt B: Unusual XX/XY chimerism. Ann. Hum. Genet. 43:89-96, 1979. [PubMed: 575030]
    Both boys are XX/XY and have A1 and B cells in blood. Mechanism of origin remains unclear.
    Index Terms: Chimera
  • Kuleshov N P: Chromosome anomalies of infants dying during the perinatal period and premature newborns. Hum. Genet. 31:151-160, 1976. [PubMed: 129431]
    Index Terms: Chimera,Perinatal death,Still born (premature)
  • Lieber C, Bordiuk J, Desposito F: 46,XY/46,XX blood chimerism with severe central nervous system defect and multiple congenital malformations. AJMG 23:833-836, 1986. [PubMed: 3953679]
    Index Terms: Chimera,Central nervous system ... disorder
  • Maciel-Guerra A T, da Silva Lopes V L G, Cardinalli I A, Viguetti N L, Marques-de-faria A P, Matias Baptista M T, Guerra G, Jr.: Coexistence of ovotestis and testicular regression in a boy with 46,XX/46,XY chimerism and sex ambiguity. Braz. J. Genet. 19:165-168, 1996.
    Patient EPS was 12 years old and referred because of cryptorchidism and scrotal hypospadias.
    46,XX(9 cells)/46,XY,3qh+,QFQ(23 cells)-blood.
    Index Terms: Ovotestis
  • Malan V, Vekemans M, Turleau C.: Chimera and other fertilization errors. Clin. Genet. 70: 363-373, 2006. [PubMed: 17026615]
    An excellent review article in which the authors suggest some mechanisms of origin and techniques to investigate.
  • Mayr W R, Pausch V, Schnedl W: Human chimera detectable only by investigation of her progeny. Nature 277:210-211, 1979. [PubMed: 551248]
    Index Terms: Chimera
  • Park I J, Jones H W, Bias W B: True hermaphroditism with 46,XX/46,XY chromosome complement. Report of a case. Obst. Gynecol. 36:377-387, 1970. [PubMed: 5465439]
    Index Terms: Chimera,Hermaphrodism ... true
  • Parvin S D: Ovulation in a cytogenetically proved phenotypically male fertile hermaphrodite. Brit. J. Surgery 69:279-280, 1982. [PubMed: 7200380]
    Patient was 32 years old and had fathered a 20 month old daughter.
    Index Terms: Chimera
  • Reindollar R H, Byrd J R, Hahn D H, Haseltine F P, McDonough P G: A cytogenetic and endocrinologic study of a set of monozygotic isokaryotic 45,X/46,XY twins discordant for phenotypic sex: mosaicism versus chimerism. Fert. Ster. 47:626-633, 1987. [PubMed: 3569546]
    Twins A(D.M.) and B(T.M.).
    mos or chi45,X/46,XY.
    Index Terms: Chimera
  • Robinson E A E, North D, Horsfield G I, Kelly F: A case of twin chimerism. J. Med. Genet. 13:528-530, 1976. [PMC free article: PMC1013487] [PubMed: 138744]
    Index Terms: Chimera
  • Sawai T, Yoshimoto M, Kinoshita E I, Baba T, Matsumoto T, Tsuji Y, Fukuda S, Harada N, Niikawa N: Case of 46,XX/47,XY,+21 chimerism in a newborn infant with ambiguous genitalia. AJMG 49:428-430, 1994. [PubMed: 8160738]
    chi46,XX/47,XY,+21-blood=294:6;skin=178:7 respectively.
    The newborn infant had small phallus, pseudo-vaginal perineal hypospadias, and a bifid scrotum containing gonads.
  • Schoenle E, Schmid W, Schinzel A A, Mahler M, Ritter M, Schenker T, Metaxas M, Froesch P, Froesch E R: 46,XX/46,XY chimerism in a phenotypically normal man. Hum. Genet. 64:86-89, 1983. [PubMed: 6575956]
    Index Terms: Chimera
  • Simon-Bouy B, Plachot M, Mokdad A, Lavaud N, Muti C, Bazin A, Vialard F, Belaisch-Allart J.: Possible human chimera detected prenatally after in vitro fertilization: a case report. Prenat. Diag. 23:935-937, 2003. [PubMed: 14634982]
    Female fetus with severe growth retardation, absence of calcaneum and talus ossification points.
    See Bonthron''s note 24: p.578 (2004).
  • Sugawara N, Tokunaga Y, Maeda M, Komaba R, Araki Y.: A successful pregnancy outcome using frozen testicular sperm from a chimeric infertile male with a 46,XX/46,XY karyotype: case report. Hum. Reprod. 20:147-148, 2005. [PubMed: 15513973]
    A healthy female infant was born using the sperm of this chimeric infertile individual by ICSI.
  • Thomas I T, Frias J L, Cantu E S, Lafer C Z, Flannery D B, Graham J G, Jr: Association of pigmentary anomalies with chromosomal and genetic mosaicism and chimerism. AJHG 45:193-205, 1989. [PMC free article: PMC1683341] [PubMed: 2667350]
    Index Terms: Pigmentary anomalies
  • Uehara S, Nata M, Nagae M, Sagisaka K, Okamura K, Yajima A.: Molecular biologic analyses of tetragametic chimerism in a true hermaphrodite with 46,XX/46,XY. Fert. Steril. 63:189-192, 1995. [PubMed: 7805911]
    Index Terms: Tetragametic
  • Verp M S, Harrison H H, Ober C, Oliveri D, Amarose A P, Lindgren V, Talerman A: Chimerism as the etiology of a 46,XX/46,XY fertile true hermaphrodite. Fert. Steril. 57:346-349, 1992. [PubMed: 1735486]
  • Wiley J E, Madigan M, Christie J D, Smith A W.: Dispermic chimerism with two abnormal cell lines, 47,XY,+21 and 47,XX,+12. AJMG 107:64-66, 2002. [PubMed: 11807871]
    The stillborn was evaluated.
  • Winberg J, Gustavsson P, Lagerstedt-Robinson K, Blennow E, Lundin J, Iwarsson E, Nordenstrom A, Anderlid B-M, Bondeson M-L, Nordenskjold A, Nordgren A.: Chimerism resulting from parthenogenetic activation and dispermic fertilization. AJMG Part A: 152A: 2277-2286, 2010. [PubMed: 20803645]
    chi 46,XX[24]/47,XY,+14[5].
    Patient was studied because of ambiguous genitalia.
    Index Terms: Parthenogenetic activation,dispermic fertilization
  • Wulf H C, Niebuhr E: Different sister chromatid exchange rates in XX and XY cells of a pair of human chimeric twins. Cytogenet. Cell Genet. 39:105-108, 1985. [PubMed: 4040003]
    Index Terms: Chimera
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105996


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