Syndromal forms of mental retardation

Translated title of the contribution: Syndromale Formen geistiger Behinderung

G. Gillessen-Kaesbach*

*Corresponding author for this work


Mental retardation of varying degree is a major component of genetic syndromes. Affected individuals with the same disorder may show different degrees of mental retardation. Making a diagnosis is a great challenge for clinical geneticists, especially because of the wide clinical variability. Besides carefully evaluating the family history and conducting a clinical examination, consideration of guiding clinical signs - including obesity, macrosomy, microcephaly, prenatal or/and postnatal growth restriction, and multiple congenital anomalies - is very helpful in establishing the correct clinical diagnosis. Modern cytogenetic and molecular cytogenetic techniques help clarify the etiology and define new disease nosologies.

Translated title of the contributionSyndromale Formen geistiger Behinderung
Original languageGerman
JournalMedizinische Genetik
Issue number2
Pages (from-to)209-216
Number of pages8
Publication statusPublished - 01.06.2009

Research Areas and Centers

  • Research Area: Medical Genetics


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