Abstract
A case report of a de novo deletion in the short arm of chromosome 7 is presented (46,XX,del(7)(p21----pter)). The five-month-old girl's major symptoms are: trigonocephalus with craniosynostosis, median bony forehead bulge, high palate, atrial septal defect, anal atresia and perineal fistula, thumb insertion far to ulnar-proximal, and a slightly retarded psychomotor development. The other cases with monosomy 7p described in the literature are reviewed.
MeSH terms
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Abnormalities, Multiple / genetics*
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Abnormalities, Multiple / pathology
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Chromosome Aberrations / genetics*
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Chromosome Aberrations / pathology
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Chromosome Deletion*
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Chromosome Disorders
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Chromosomes, Human, Pair 7 / ultrastructure*
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Craniosynostoses / genetics*
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Craniosynostoses / pathology
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Female
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Heart Septal Defects, Atrial / genetics*
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Heart Septal Defects, Atrial / pathology
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Humans
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Infant, Newborn
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Intellectual Disability / genetics
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Intellectual Disability / pathology