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Chapter 35 - Genetic Screening and Diagnosis

Published online by Cambridge University Press:  27 July 2023

By
Tessa Homfray
Edited by
Asma Khalil  and
Anthony Griffiths
Asma Khalil
Affiliation:
St George's University of London
Anthony Griffiths
Affiliation:
University Hospital of Wales, Cardiff
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Summary

Short vagina – will require vaginal lengthening with vaginal dilators for sexual intercourse

Type
Chapter
Information
Part 1 MRCOG Synoptic Revision Guide , pp. 337 - 349
Publisher: Cambridge University Press
Print publication year: 2023

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References

Achermann, JC, Jameson, JL. Disorders of sex development. In Harrison’s Principles of Internal Medicine, 18th ed., Longo, DL, Fauci, AS, Kasper, DL, Hauser, SL, Jameson, JL, Loscalzo, J (eds.), pp. 3046–55. McGraw-Hill, 2011.Google Scholar
Ahmed, SF, Achermann, JC, Arlt, W, Balen, AH, Conway, G, Edwards, ZL, Elford, S, Hughes, IA, Izatt, L, Krone, N, Miles, HL, O’Toole, S, Perry, L, Sanders, C, Simmonds, M, Wallace, AM, Watt, A, Willis, D. UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development. Clin Endocrinol (Oxf). 2011 Jul;75(1):12–26.CrossRefGoogle ScholarPubMed
Bilgin, EM, Kovanci, E. Genetics of premature ovarian failure. Curr Opin Obstet Gynecol. 2015 Jun;27(3):167–74.CrossRefGoogle ScholarPubMed
Krausz, C, Escamilla, AR, Chianese, C. Genetics of male infertility: from research to clinic. Reproduction. 2015 Nov;150(5):R159–74.Google Scholar
Gardner, RJMK, Sutherland, GR, Shaffer LG. Chromosome Abnormalities and Genetic Counseling. Oxford University Press, 2011.Google Scholar
Homfray, T. Diagnosis of hydrops and multiple malformation syndromes. In Twining’s Textbook of Fetal Abnormalities, Coady, AM, Bower Churchill Livingstone, S (eds.), pp. 161–81. Elsevier, 2015.Google Scholar
Jones, KL, Jones, MC, Campo, M Del. Smith’s Recognizable Patterns of Human Malformation. 2013Google Scholar
Firth, HV, Hurst, JA. Oxford Desk Reference: Clinical Genetics (Oxford Desk Reference Series), Pregnancy and Fertility, pp. 566–644. Oxford University Press, 2005.Google Scholar
Kobayashi, H, Ohno, S, Sasaki, Y, Matsuura, M. Hereditary breast and ovarian cancer susceptibility genes (review). Oncol Rep. 2013 Sep;30(3):1019–29.Google Scholar
Firth, HV, Hurst, JA. Oxford Desk Reference: Clinical Genetics (Oxford Desk Reference Series), BRCA1 & 2, pp. 426–29, HNPCC, pp. 454–58. Oxford University Press, 2005.Google Scholar

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