New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13

The Miller-Dieker Syndrome (MDS) consists of lissencephaly, characteristic facies, pre- and postnatal growth retardation, plus various other birth defects. Autosomal recessive inheritance has been presumed based on four reported families with two or more affected siblings. We present substantial evi...

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Bibliographic Details
Published in:Human genetics 1984-07, Vol.67 (2), p.193-200
Main Authors: STRATTON, R. F, DOBYNS, W. B, AIRHART, S. D, LEDBETTER, D. H
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Biological and medical sciences
Brain - abnormalities
Child, Preschool
Chromosome Aberrations - genetics
Chromosome Deletion
Chromosome Disorders
Chromosomes, Human, 16-18
Complex syndromes
Facial Expression
Female
Genes, Recessive
Growth Disorders - genetics
Humans
Infant
Karyotyping
Male
Medical genetics
Medical sciences
Phenotype
Prenatal Diagnosis
Syndrome
Translocation, Genetic
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Summary:The Miller-Dieker Syndrome (MDS) consists of lissencephaly, characteristic facies, pre- and postnatal growth retardation, plus various other birth defects. Autosomal recessive inheritance has been presumed based on four reported families with two or more affected siblings. We present substantial evidence that monosomy 17p13.3 causes the MDS phenotype. This includes two patients with ring chromosome 17, one patient with a de novo 17p13 deletion, and one patient with monosomy 17p due to an unbalanced 7p; 17p translocation. We report the first prenatal diagnosis of MDS in a 20-week fetus from this latter family. Additionally, we report a balanced translocation between chromosome 17 and different autosomes (8, 12, and 15) in three of the four familial cases of lissencephaly. The finding of a chromosomal basis for this presumed autosomal recessive disorder significantly alters genetic counseling and makes prenatal diagnosis possible in some families.
ISSN:0340-6717
1432-1203
DOI:10.1007/bf00273000