PMID: 9548640Apr 21, 1998Paper

Genetics and developmental delay

Seminars in Pediatric Neurology
C Macmillan

Abstract

The discovery of new cytogenetic and molecular genetic techniques and principles has been explosive in recent years. A secure diagnosis based on molecular evidence has become possible for many syndromes previously only clinically defined, which has helped enormously in predicting children's developmental progress, in allowing knowledgeable surveillance for potential associated health problems, in genetic counseling, and in prenatal diagnosis. This article reviews several of the most significant recently described cytogenetic and molecular genetic principles and techniques in relation to the child who presents with developmental delay.

References

Aug 1, 1986·The Journal of Pediatrics·R D Schmickel
Apr 8, 1988·Cell·H Cedar
Jan 1, 1980·American Journal of Medical Genetics·E Engel
Dec 1, 1994·Prenatal Diagnosis·D K Kalousek, I Barrett
Jun 1, 1994·Journal of Bioenergetics and Biomembranes·M D Brown, D C Wallace
Jun 1, 1994·Journal of Bioenergetics and Biomembranes·E A SchonS DiMauro
Jun 1, 1994·Journal of Bioenergetics and Biomembranes·E A Shoubridge
Sep 1, 1995·Human Molecular Genetics·T M OlsonS N Thibodeau

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