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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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Moles

  • Benirschke K: Flow cytometry for all mole-like abortion specimens. Hum. Path. 20:403-404, 1989. [PubMed: 2707790]
    Lage J M, Weinberg D S, Yavner D L, Bieber F R: The biology of tetraploid hydatidiform moles: histopathology, cytogenetics, and flow cytometry. Hum. Path. 20:419-425, 1989. [PubMed: 2707792]
  • Chao A-S, Tsai T-C, Soong Y-K.: Clinical management of a quadruplet pregnancy combining a triplet pregnancy with a classical hydatidiform mole: case report and review of literature. Prenat. Diag. 19:1073-1076, 1999. [PubMed: 10589065]
    The authors suggest that in more efficacious treatment planning, selective feticide should be considered in order to improve the likelihood of attaining an advanced gestational age for a single fetus.
  • Choi-Hong S R, Genest D R, Crum C P, Berkowitz R, Goldstein D P, Schofield D E.: Twin pregnancies with complete hydatidiform mole and coexisting fetus: use of fluorescent in situ hybridization to evaluate placental X- and Y-chromosomal content. Hum. Path. 26:1175-1180, 1995. [PubMed: 7590688]
    Index Terms: Twins ... pregnancy
  • Davis J R, Kerrigan D P, Way D L, Weiner S A: Partial hydatidiform moles: Deoxyribonucleic acid content and course. Am. J. Obst. Gynecol. 157:969-973, 1987. [PubMed: 3674171]
  • Edwards R G, Crow J, Dale S, MacNamee M, Hartshorne G, Brinsden P: Preimplantation diagnosis and recurrent hydatidiform mole. Lancet i:1030-1031, 1990. [PubMed: 1970075]
  • Fisher R A, Lawler S D, Povey S, Bagshawe K D: Genetically homozygous choriocarcinoma following pregnancy with hydatidiform mole. Brit. J. Cancer 58:788-792, 1988. [PMC free article: PMC2246880] [PubMed: 2906253]
    Fisher R A, Povey S, Jeffreys A J, Martin C A, Patel I, Lawler S D: Frequency of heterozygous complete hydatidiform moles, estimated by locus-specific minisatellite and Y chromosome-specific probes. Hum. Genet. 82:259-263, 1989. [PubMed: 2567275]
    Index Terms: Choriocarcinoma
  • Fisher R A, Sheppard D M, Lawler S D: Twin pregnancy with complete hydatidiform mole (46,XX) and fetus (XY): genetic origin proved by analysis of chromosome polymorphisms. BMJ 284:1218-1220, 1982. [PMC free article: PMC1498081] [PubMed: 6803908]
    Lawler S D, Fisher R A: Genetic studies in hydatidiform mole with clinical correlations. Placenta 8:77-88, 1987. [PubMed: 3473466]
  • Ford J H, Brown J K, Lew W Y C, Peters G B: Diploid complete hydatidiform mole, mosaic for normally fertilized cells and androgenetic homozygous cells. Case report. Brit. J. Obst. Gynecol. 93:1181-1186, 1986. [PubMed: 3778854]
  • Fujita N, Tamura S, Shimizu N, Nozawa S.: Genetic origin analysis of hydatidiform mole and non-molar abortion using the polymerase chain reaction method. Acta Obstet. Gynecol. Scand. 73:719-725, 1994. [PubMed: 7976249]
  • Fukunaga M, Endo Y, Ushigome S.: Clinicopathologic study of tetraploid hydropic villous tissues. Arch. Pathol. Lab. Med. 120:569-572, 1996. [PubMed: 8651859]
    2/35 cases were tetraploid.
  • Habibian R, Surti U: Cytogenetics of trophoblasts from complete hydatidiform moles. Cancer Genet. Cytogenet. 29:271-287, 1987. [PubMed: 3677047]
    Surti U, Szulman A E, O''Brien S J: Dispermic origin and clinical outcome of three complete hydatidiform moles with 46,XY karyotype. Am. J. Obst. Gynecol. 144:84-87, 1982. [PubMed: 7114116]
    Of a total of 18 cases, two patients have had a malignant course with lung metastases, however post operative clinical information was available on only 10 patients.
  • Higashino M, Harada N, Hataya I, Nishimura N, Kato M, Niikawa N.: Trizygotic pregnancy consisting of two fetuses and a complete hydatidiform mole with dispermic androgenesis. AJMG 82:67-69, 1999. [PubMed: 9916846]
    Hydatidiform mole-46,XY.,Two fetuses each with a 46,XX and a 46,XY karyotype.
    The triplet pregnancy was terminated.
  • Hunt P A, Jacobs P A: In vitro growth and chromosome constitution of placental cells. II. Hydatidiform moles. Cytogenet. Cell Genet. 39:7-13, 1985. [PubMed: 3979121]
  • Jacobs P A, Hunt P A, Matsuura J S, Wilson C C, Szulman A E: Complete and partial hydatidiform mole in Hawaii: cytogenetics, morphology and epidemiology. Brit. J. Obst. Gynecol. 89:258-266, 1982. [PubMed: 7073993]
    Jacobs P A, Wilson C M, Sprenkle J A, Rosenshein N B, Migeon B R: Mechanisms of origin of complete hydatidiform moles. Nature 286:714-716, 1980. [PubMed: 6447836]
    A study on 24 specimen suggests that a haploid sperm fertilizes an empty egg which then duplicates without cytokinesis to restore the diploid number.
  • Jinno M, Ubukata Y, Hanyu I, Satou M, Yoshimura Y, Nakamura Y.: Hydatidiform mole with a surviving coexistent fetus following in-vitro fertilization. Hum. Reprod. 9:1770-1772, 1994. [PubMed: 7836536]
  • Kajii T, Kurashige H, Ohama K, Uchino F: XY and XX complete moles: clinical and morphologic correlations. Am. J. Obst. Gynecol. 150:57-64, 1984. [PubMed: 6476027]
  • Kajii T, Ohama K: Androgenetic origin of hydatidiform mole. Nature 268:633-634, 1977. [PubMed: 561314]
  • Lawler S D, Fisher R A, Dent J: A prospective genetic study of complete and partial hydatidiform moles. Am. J. Obstet. Gynecol. 164:1270-1277, 1991. [PubMed: 1674641]
    An extensive study of 202 moles. Diploid and tetraploid cases were detected.
  • Moglabey Y B, Kircheisen R, Seoud M, El Mogharbel N, Van den Veyver I, Slim R.: Genetic mapping of a maternal locus responsible for familial hydatidiform moles. Hum. Mol. Genet. 8:667-671, 1999. [PubMed: 10072436]
    The authors have demonstrated that a defective maternal gene is responsible for recurrent hydatidiform moles (HM). It resides on chromosome 19q13.3-13.4 in a 15.2 cM interval flanked by D19S924 and D19S890.
  • Murdoch S, Djuric U, Mazhar B, Seoud M, Khan R, Kuick R, Kircheisen R, Ao A, Ratti B, Hanash S, Rouleau G A, Slim R.: Mutations in NALP7 cause recurrent hydatidifrom moles and reproductive wastage in humans. Nature Genet. 38:300-302, 2006. [PubMed: 16462743]
    Two families (MoLb1 and MoPa61) with recurrent spontaneous abortions were studied.
    Five mutations in the gene NALP7 in individuals with familial and recurrent hydatidiform moles.
    MIM#: 231090
    Index Terms: NALP7
  • Mutter G L, Pomponio R J, Berkowitz R S, Genest D R.: Sex chromosome composition of complete hydatidiform moles: relationship to metastasis. Am. J. Obstet. Gynecol. 168:1547-1551, 1993. [PubMed: 8498441]
    Index Terms: Metastasis
  • Ohama K, Kajii T, Okamoto E, Fukuda Y, Imaizumi K, Tsukahara M, Kobayashi K, Hagiwara K: Dispermic origin of XY hydatidiform moles. Nature 292:551-552, 1981. [PubMed: 7254351]
    Four XY moles originating from the fertilization of an empty egg by two haploid spermatozoa are described.
  • Pattillo R A, Sasaki S, Katayama K P, Roesler M R, Mattingly R F: Genesis of 46,XY hydatidiform mole. Am. J. Obst. Gynecol. 141:104-105, 1981. [PubMed: 7270611]
    Analysis of marker chromosomes suggested that the hydatidiform mole originated from fertilization by two spermatozoa of an ovum without maternal chromosomes.
  • Saji F, Tokugawa Y, Kimura T, Kamiura S, Nobunaga T, Azuma C, Tanizawa O: A new approach using DNA fingerprinting for the determination of androgenesis as a cause of hydatidiform mole. Placenta 10:399-405, 1989. [PubMed: 2571147]
    Index Terms: DNA fingerprinting
  • Slim R, Mehio A.: The genetics of hydatidiform moles: new lights on an ancient disease. Clin. Genet. 71: 25-34, 2007. [PubMed: 17204043]
  • Sunde L: Genetic analyses of hydatidiform moles with conceptual and practical implications. Acta Obstet. Gynecol. Scand. 73:363-364, 1994.
  • Taillon-Miller P, Bauer-Sardina I, Zakeri H, Hillier L Mutch D G, Kwok P Y.: The homozygous complete hydatidiform mole: a unique resource for genome studies. Genomics 46:307-310, 1997. [PubMed: 9417922]
  • Takahashi H, Ikarashi T, Kanazawa K, Kominami R, Tanaka K: Re-evaluation of hydatidiform mole by DNA fingerprint method: the discrepancy in the diagnoses by pathological finding and the DNA fingerprint method. Placenta 12:487-493, 1991. [PubMed: 1775442]
  • Teng N N H, Ballon S C: Partial hydatidiform mole with diploid karyotype: report of three cases. Am. J. Obst. Gynecol. 150:961-964, 1984. [PubMed: 6507534]
    Case 1: 46,XX.
    Case 2: 46,XY.
    Case 3: 46,XY.
  • Tsuji K, Yagi S, Nakano R: Increased risk of malignant transformation of hydatidiform moles in older gravidas: a cytogenetic study. Obst. Gynecol. 58:351-355, 1981. [PubMed: 7266955]
  • Vejerslev L O, Dissing J, Hansen H E, Poulsen H: Hydatidiform mole: genetic origin in polyploid conceptuses. Hum. Genet. 76:11-19, 1987. [PubMed: 3471702]
    Vejerslev L O, Dissing J, Hansen H E, Poulsen H: Hydatidiform mole: genetic markers in diploid abortuses with macroscopic villous enlargement. Cancer Genet. Cytogenet. 26:143-155, 1987. [PubMed: 3470129]
    Vejerslev L O, Fisher R A, Surti U, Walke N: Hydatidiform mole: cytogenetically unusual cases and their implications for the present classification. Am. J. Obst. Gynecol. 157:180-184, 1987. [PubMed: 3474901]
    Correction 159:537, 1988.

    Vejerslev L O, Hallberg A, Tommerup N: Hydatidiform mole: a chromosomal search for a recessive mutation. Hum. Reprod. 1:337-340, 1986. [PubMed: 3558779]
    Seven molar specimen were processed. Five were diploid (46,XX) and two were triploid (69,XXX).
    This ongoing study has had 103 suspected molar specimens examinations.
    69,XXX.
    Index Terms: Triploidy
  • Zaragoza M V, Keep D, Genest D R, Hassold T, Redline R W.: Early complete hydatidiform moles contain inner cell mass derivatives. AJMG 70:273-277, 1997. [PubMed: 9188665]
    Five cases were studied.
    Confirmed by DNA studies to be androgenetic in origin.
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106370

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