Abstract
We describe a boy with severe hypotonia and minor facial anomalies with a terminal deletion of chromosome 2q (46,XY,del(2)(q37)). Comparison with previous cases in the literature indicates that this particular deletion results in infantile hypotonia, developmental delay, and minor craniofacial anomalies including frontal bossing and micrognathia. The absence of true malformations and few minor anomalies in this patient suggests that indications for obtaining a chromosome analysis from neurologically impaired individuals need to be reevaluated.
Publication types
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Case Reports
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Abnormalities, Multiple / genetics*
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Abnormalities, Multiple / pathology
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Abnormalities, Multiple / physiopathology
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Chromosome Aberrations* / pathology
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Chromosome Aberrations* / physiopathology
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Chromosome Banding
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Chromosome Deletion*
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Chromosome Disorders*
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Chromosomes, Human, Pair 2*
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Facial Muscles / physiopathology
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Growth Disorders / genetics
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Growth Disorders / pathology
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Growth Disorders / physiopathology
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Humans
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Infant
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Intellectual Disability / genetics
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Karyotyping
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Male
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Muscle Hypotonia / genetics*
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Muscle Hypotonia / pathology
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Phenotype