Abstract
We report on a girl with holoprosencephaly and a small, de novo interstitial deletion of most of band 2(p21). The similarity between the cytogenetic findings and CNS malformations in our patient and those recently reported by Münke et al. [Am J Med Genet 30:929-938, 1988] suggests a phenotypic relationship between deletion of this band and holoprosencephaly.
MeSH terms
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Abnormalities, Multiple / diagnostic imaging
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Abnormalities, Multiple / genetics*
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Brain / abnormalities*
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Brain / diagnostic imaging
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Chromosome Banding
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Chromosome Deletion*
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Chromosomes, Human, Pair 2*
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Facial Bones / abnormalities
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Female
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Humans
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Infant, Newborn
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Karyotyping
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Radionuclide Imaging
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Skull / abnormalities
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Syndrome
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Tomography Scanners, X-Ray Computed