Macrocephaly and chromosome disorders: a case report

We report the case of a young patient with macrocephaly. After excluding the most frequent causes of macrocephaly (hereditary disorders, degenerative, osseous and metabolic diseases, neurocutaneous syndromes and cerebral malformations), the likelihood of a chromosome disorder was investigated, revea...

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Bibliographic Details
Published in:Brain & development (Tokyo. 1979) 1996-07, Vol.18 (4), p.312-315
Main Authors: Drigo, Paola, Carra`, Sabina, Laverda, Anna Maria, Artifoni, Lina
Format: Article
Language:English
Subjects:
Biological and medical sciences
Brain - abnormalities
Brain - diagnostic imaging
Child, Preschool
Chromosome Banding
Chromosome disorder
Chromosomes, Human, Pair 7
Female
Humans
Karyotyping
Macrocephaly
Malformations of the nervous system
Medical sciences
Neurology
Scoliosis
Skull - abnormalities
Skull - diagnostic imaging
Tomography, X-Ray Computed
Translocation, Genetic
Unbalanced translocation X
X Chromosome
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Summary:We report the case of a young patient with macrocephaly. After excluding the most frequent causes of macrocephaly (hereditary disorders, degenerative, osseous and metabolic diseases, neurocutaneous syndromes and cerebral malformations), the likelihood of a chromosome disorder was investigated, revealing an unbalanced de novo translocation: 46,X,der(X),t(X;7) (q13 or 813.2; 811.23 or 821.11), i.e., a partial trisomy of the long arm of chromosome 7, associated with a partial monosomy of the long arm of chromosome X. Though this chromosome disorder is relatively rare, it should be considered in the differential diagnosis of patients under one year of age presenting with macrocephaly, scoliosis and non-progressive psychomotor retardation.
ISSN:0387-7604
1872-7131
DOI:10.1016/0387-7604(96)00025-3