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Am J Med Genet ; 34(2): 252-4, 1989 Oct.
Article in English | MEDLINE | ID: mdl-2817006

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.


Subject(s)
Abnormalities, Multiple/genetics , Brain/abnormalities , Chromosome Deletion , Chromosomes, Human, Pair 2 , Abnormalities, Multiple/diagnostic imaging , Brain/diagnostic imaging , Chromosome Banding , Facial Bones/abnormalities , Female , Humans , Infant, Newborn , Karyotyping , Radionuclide Imaging , Skull/abnormalities , Syndrome , Tomography Scanners, X-Ray Computed
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