pmc logo image
Logo of jmedgeneJournal of Medical GeneticsCurrent TOCInstructions for authors
Journal List > J Med Genet > v.12(1); Mar 1975

Formats:
J Med Genet. 1975 March; 12(1): 70–78.
PMCID: PMC1013233
Copyright notice
The occurrence of gonadal dysgenesis in association with monozygotic twinning.
L Karp, J I Bryant, G Tagatz, E Giblett, and P J Fialkow
Small right arrow pointing to: This article has been cited by other articles in PMC.
Abstract
A case is presented of a monozygotic twin pair, discordant for phenotypic sex, in which the female member showed gonadal dysgenesis and chromosomal mosaicism. Review of the pertinent literature reveals that in monozygotic twin pairs, phenotypic and karyotypic concordance is the usual occurrence for Down's and Klinefelter's syndromes, whereas discordance often accompanies gonadal dysgenesis. Mosaicism is a frequent concomitant of gonadal dysgenesis in monozygotic twins. Our case strengthens the probability of a real association between mosaicism and monozygotic twinning in gonadal dysgenesis.
Full text
Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (3.1M), or click on a page image below to browse page by page. Links to PubMed are also available for Selected References.
 
icon of scanned page 70
70
icon of scanned page 71
71
icon of scanned page 72
72
icon of scanned page 73
73
icon of scanned page 74
74
icon of scanned page 75
75
icon of scanned page 76
76
icon of scanned page 77
77
icon of scanned page 78
78
 
Images in this article
Image
Image

Image
on p.71
Image
Image

Image
on p.72
Image
Image

Image
on p.74
Image
Image

Image
on p.75
Image
Image

Image
on p.76
Click on the image to see a larger version.
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
  • Barr ML, Carr DH, Plunkett ER, Soltan HC, Wiens RG. Male pseudohermaphroditism and pure gonadal dysgenesis in sisters. Am J Obstet Gynecol. 1967 Dec 15;99(8):1047–1055. [PubMed]
  • Benirschke K, Kim CK. Multiple pregnancy. 1. N Engl J Med. 1973 Jun 14;288(24):1276–1284. [PubMed]
  • Benirschke K, Kim CK. Multiple pregnancy. 2. N Engl J Med. 1973 Jun 21;288(25):1329–1336. [PubMed]
  • Caspersson T, Hultén M, Jonasson J, Lindsten J, Therkelsen A, Zech L. Translocations causing non-fluorescent Y chromosomes in human XO/XY mosaics. Hereditas. 1971;68(2):317–324. [PubMed]
  • DECOURT J, LEJEUNE J, MICHARD JP, PETROVER M. SYNDROME DE TURNER HAPLO-X TYPIQUE CHEZ DEUX JUMELLES MONOZYGOTES. Ann Endocrinol (Paris). 1964 Jul–Aug;25:438–440. [PubMed]
  • Edwards JH, Dent T, Kahn J. Monozygotic twins of different sex. J Med Genet. 1966 Jun;3(2):117–123. [PubMed]
  • Fathalla MF, Rashad MN, Kerr MG. The relationship between ovarian tumours and intersex states with special reference to the disgerminoma and arrhenoblastoma. J Obstet Gynaecol Br Commonw. 1966 Oct;73(5):812–820. [PubMed]
  • Ferrier PE, Ferrier SA, Kelley VC. Sex chromosome mosaicism in disorders of sexual differentiation: incidence in various tissues. J Pediatr. 1970 May;76(5):739–744. [PubMed]
  • Fialkow PJ. Autoimmunity and chromosomal aberrations. Am J Hum Genet. 1966 Jan;18(1):93–108. [PubMed]
  • Josso N, Nezelof C, Picon R, de Grouchy J, Dray F, Rappaport R. Gonadoblastoma in gonadal dysgenesis: a report of two cases with 46,XY-45,X mosaicism. J Pediatr. 1969 Mar;74(3):425–437. [PubMed]
  • KLEMPMAN S. THE INVESTIGATION OF DEVELOPMENTAL SEXUAL ABNORMALITIES. S Afr Med J. 1964 Apr 11;38:234–236. [PubMed]
  • LEMLI L, SMITH DW. THE XO SYNDROME. A STUDY OF THE DIFFERENTIATED PHENOTYPE IN 25 PATIENTS. J Pediatr. 1963 Oct;63:577–588. [PubMed]
  • Lo Curto F, Scappaticci S, Zuffardi O, Chierichetti G, Fraccaro M. Non-fluorescent Y chromosome in a 45,X-46,XY mosaic. Ann Genet. 1972 Jun;15(2):107–110. [PubMed]
  • MIKKELSEN M, FROLAND A, ELLEBJERG J. XO-XX MOSAICISM IN A PAIR OF PRESUMABLY MONOZYGOTIC TWINS WITH DIFFERENT PHENOTYPES. Cytogenetics. 1963;65:86–98. [PubMed]
  • Muller P, Clavert J, Rihm G, Gillet JY. Mosaïque 45,XO-46,XX-47,XXX chez deux jumelles monozygotes: concordances et discordances cliniques et biologiques. Ann Endocrinol (Paris). 1970 Nov–Dec;31(6):1143–1152. [PubMed]
  • NANCE WE, UCHIDA I. TURNER'S SYNDROME, TWINNING, AND AN UNUSUAL VARIANT OF GLUCOSE-6-PHOSPHATE DEHYDROGENASE. Am J Hum Genet. 1964 Sep;16:380–392. [PubMed]
  • Nicolis GL, Hsu LY, Sabetghadam R, Kardon NB, Chernay PR, Mathur DP, Rose HG, Hirschhorn K, Gabrilove JL. Klinefelter's syndrome in identical twins with the 46,XX chromosome constitution. Am J Med. 1972 Apr;52(4):482–491. [PubMed]
  • Potter AM, Taitz LS. Turner's syndrome in one of monozygotic twins with mosaicism. Acta Paediatr Scand. 1972 Jul;61(4):473–476. [PubMed]
  • Rainer JD, Abdullah S, Jarvik LF. XYY karyotype in a pair of monozygotic twins: a 17-year life-history study. Br J Psychiatry. 1972 May;120(558):543–548. [PubMed]
  • Riekhof PL, Horton WA, Harris DJ, Schimke RN. Monozygotic twins with the Turner syndrome. Am J Obstet Gynecol. 1972 Jan 1;112(1):59–61. [PubMed]
  • Ross GT, Tjio JH, Lipsett MB. Cytogenetic studies of presumptively monozygotic twin girls discordant for gonadal dysgenesis. J Clin Endocrinol Metab. 1969 Apr;29(4):440–445. [PubMed]
  • Russell A, Moschos A, Butler LJ, Abraham JM. Gonadal dysgenesis and its unilateral variant with testis in monozygous twins: related to discordance in sex chromosomal status. J Clin Endocrinol Metab. 1966 Dec;26(12):1282–1292. [PubMed]
  • Shine IB, Corney G. Turner's syndrome in monozygotic twins. J Med Genet. 1966 Jun;3(2):124–128. [PubMed]
  • Starkman MN, Jaffe RB. Chromosome aberrations in XO-XY mosaic individuals and their fathers. Am J Obstet Gynecol. 1967 Dec 15;99(8):1056–1066. [PubMed]
  • Taylor H, Barter RH, Jacobson CB. Neoplasms of dysgenetic gonads. Am J Obstet Gynecol. 1966 Nov 15;96(6):816–823. [PubMed]
  • TURNER HH, ZANARTU J. Ovarian dysgenesis in identical twins: discrepancy between nuclear chromatin pattern in somatic cells and in blood cells. J Clin Endocrinol Metab. 1962 Jun;22:660–665. [PubMed]
  • TURPIN R, LEJEUNE J, LAFOURCADE J, CHIGOT PL, SALMON C. [Presumption of monozygotism in spite of a sexual dimorphism: XY male subject and haploid X neuter subject.]. C R Hebd Seances Acad Sci. 1961 May 8;252:2945–2946. [PubMed]
  • Van der Horst R, Frankel J, Grace J. Congenital hypertrophic pyloric stenosis in phenotypic female twins with X-XX mosaicism. Arch Dis Child. 1971 Aug;46(248):554–556. [PubMed]
Articles from Journal of Medical Genetics are provided here courtesy of
BMJ Group

PubMed articles by these authors