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European Journal of Pediatrics

, Volume 144, Issue 5, pp 503–504 | Cite as

A case of perineal hypospadias with paracentric inversion of chromosome 14

  • A. K. C. Leung
  • J. J. Hoo
Original Investigations

Abstract

Abnormalities of chromosome 14 are encountered infrequently in clinical cytogenetics and only few studies of paracentric inversion have been published. This paper reports the first case of hypospadias associated with paracentric inversion of chromosome 14.

Key words

Hypospadias Paracentric inversion of chromosome 14 

Abbreviations

ICD

inner canthal distance

OCD

outer canthal distance

IPD

interpupillary distance

FSH

rollicle stimulating hormone

LH

luteinizing hormone

References

  1. 1.
    De Grouchy J, Turleau C (1977) Clinical atlas of human chromosomes. John Wiley and Sons, New York Chichester Brisbane Toronto, pp 16–22, 170–176Google Scholar
  2. 2.
    Fryns JP, Van den Berghe H (1980) Paracentric inversion in man: personal experience and review of the literature. Hum Genet 54:413–416Google Scholar
  3. 3.
    Hoo JJ, Lorenz R, Fischer A, Fuhrmann W (1982) Tiny interstitial duplication of proximal 7q in association with maternal paracentric inversion. Hum Genet 62:113–116Google Scholar
  4. 4.
    Jackson JF, Montalvo JM (1968) Hypospadias in Klinefelter's syndrome. J Urol 100:315–316Google Scholar
  5. 5.
    Jaeken J, Fryns JP, Standaert L, de Cock P, Van den Berghe H (1980) De novo paracentric inversion in a microcephalic boy: 46,XY,inv(14)(q13q24). Ann Genet 23:105–107Google Scholar
  6. 6.
    Miniberg DT, Bingol N, Wasserman E (1979) Hypospadias. In: Bergsma D (ed) Birth Defect Compendium, 2nd edn. Alan R Liss, New York, pp 570–571Google Scholar
  7. 7.
    Ridler MAC, Sutton SD (1981) A case of paracentric inversion inv(7)(q11q22). Prenatal detection and counselling. Prenatal Diagnosis 1:81–84Google Scholar
  8. 8.
    Schaefer AA, Erbes J (1950) Hypospadias. Am J Surg 80:183–191Google Scholar
  9. 9.
    Vigi V, Maraschio P, Bosi G, Guerine P, Fraccaro M (1977) Risk for recombinants in in pericentric inversions of the (p11→q21) region of chromosome 18. Hum Genet 37:1–5Google Scholar
  10. 10.
    Yu CW, Borgaonkar DS, Bolling DR (1976) Paracentric inversion in man. Hum Genet 34:117Google Scholar

Copyright information

© Springer-Verlag 1986

Authors and Affiliations

  • A. K. C. Leung
    • 1
  • J. J. Hoo
    • 1
  1. 1.The Department of Pediatrics, Faculty of MedicineUniversity of CalgaryCanada

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