Cornelia de Lange syndrome (CDLS) is a relatively common multiple congenital anomaly/mental retardation disorder with an unknown genetic and molecular pathogenesis. The essential features of this developmental malformation syndrome are retardation in growth, developmental delay, various structural limb abnormalities, and distinctive facial features. Most cases are sporadic and are thought to result from a new dominant mutation. Consequently, hypotheses regarding the pathogenetic mechanisms underlying the two distinct phenotypes, classic and mild, are purely speculative. The recent discovery of molecular techniques and identification of the NIPBL gene has allowed etiologic diagnosis of this disorder. In this article, we describe a patient with CDLS in whom conventional cytogenetics, fluorescence in situ hybridization, and NIPBL gene mutation analysis determined an etiologic diagnosis, providing precise genetic counseling and facilitated the family to make an evidence-based decision for conception and also alleviated the extreme degree of anxiety associated with the thought of having a second child in this set of circumstances.
Lissencephaly is a clinically and genetically heterogeneous malformation of the brain, leading to a severe disabling condition and seizures. The recent discovery of molecular techniques and identification of lissencephaly genes (LIS 1 and DCX) has allowed etiologic diagnosis of this disorder. We describe a patient with lissencephaly in whom fluorescence in situ hybridization and DCX mutation analysis determined etiologic diagnosis, allowing precise genetic counseling and providing prenatal diagnosis for the family.
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