Genetic evaluation of pervasive developmental disorders: the terminal 22q13 deletion syndrome may represent a recognizable phenotype

The evaluation of mental retardation is always a challenge to clinicians. The recognition of specific physical or behavioral characteristics can vastly improve diagnostic yield. Several genetic disorders have been identified to have certain behavioral characteristics, such as Williams syndrome, Smit...

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Veröffentlicht in:	Clinical genetics 2000-02, Vol.57 (2), p.103-109
Hauptverfasser:	Prasad, Chitra, Prasad, Asuri N, Chodirker, Bernard N, Lee, Christine, Dawson, Angelika K, Jocelyn, Leslie J, Chudley, Albert E
Format:	Artikel
Sprache:	eng
Schlagworte:	22q13 deletion Autistic Disorder - genetics Biological and medical sciences Child Chromosome aberrations Chromosome Deletion Chromosomes, Human, Pair 22 developmental delay Developmental Disabilities - genetics Facies Female FISH Humans hypotonia In Situ Hybridization, Fluorescence Intellectual Disability - genetics Male Medical genetics Medical sciences pervasive developmental disorder Phenotype Syndrome
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