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Textbook of Clinical Pediatrics pp 39–59Cite as

Cytogenetic Testing and Chromosomal Disorders

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Cytogenetic Testing

It took until 1956 before the correct number of human chromosomes of 46/cell was determined by Tjio and Levan. The discovery of the correct number of human chromosomes lead to the subsequent discovery that trisomy 21 is the cause of Down syndrome. Soon thereafter, a series of associations of different birth defects with specific chromosomal imbalances became apparent. First, the chromosomes 13 trisomy (Patau syndrome), trisomy 18 (Edwards syndrome), and monosomy and trisomy X syndromes were identified. Subsequently, smaller segmental chromosomal imbalances such as 5p- and 4p- were proven to cause birth defects. These associations launched cytogenetic genetic testing as a routine diagnostic tool and resulted in systematic screening for children with birth defects. These screenings, in turn, resulted in the identification of thousands of chromosomal imbalances associated with specific syndromic features.

Initially, chromosome studies were performed using simple...

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Authors and Affiliations

  1. Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000, Ghent, Belgium

    Dr. Karen Buysse

  2. Center for Human Genetics, Catholic University of Leuven, Herestraat 49, B-3000, Leuven, Belgium

    Prof. Joris Robert Vermeesch

Authors
  1. Prof. Joris Robert Vermeesch
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  2. Dr. Karen Buysse
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Corresponding author

Correspondence to Joris Robert Vermeesch .

Editor information

Editors and Affiliations

  1. Faculty of Medicine, Umm Al-Qura University, Makkah, Saudi Arabia

    Abdelaziz Y. Elzouki (Professor of Pediatrics) (Professor of Pediatrics)

  2. National Center of Allergy, Asthma & Immunology (NCAAI), Riyadh, Saudi Arabia

    Harb A. Harfi (Director) (Director)

  3. Consultant Pediatric Gastroenterology & Hepatology, Islamic Hospital, Amman, Jordan

    Hisham M. Nazer

  4. Seattle Children's Hospital University of Washington, School of Medicine, Seattle, WA, USA

    F. Bruder Stapleton (Professor and Chair Department of Pediatrics) (Professor and Chair Department of Pediatrics)

  5. Alpert Medical School of Brown University, Woman and Infants Hospital, Providence, RI, USA

    William Oh (Professor of Pediatrics) (Professor of Pediatrics)

  6. University of Alabama, Birmingham, AL, USA

    Richard J. Whitley (Professor of Pediatrics) (Professor of Pediatrics)

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© 2012 Springer-Verlag Berlin Heidelberg

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Vermeesch, J., Buysse, K. (2012). Cytogenetic Testing and Chromosomal Disorders. In: Elzouki, A.Y., Harfi, H.A., Nazer, H.M., Stapleton, F.B., Oh, W., Whitley, R.J. (eds) Textbook of Clinical Pediatrics. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-02202-9_4

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  • DOI: https://doi.org/10.1007/978-3-642-02202-9_4

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-02201-2

  • Online ISBN: 978-3-642-02202-9

  • eBook Packages: MedicineReference Module Medicine

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