Concurrence of inv(7)(q11.2q32) and del(8)(p23.1) in a girl with congenital microcephaly, hypotonia, developmental delay, strabismus, hypernatremia, hypermagnesemia and deafness.
The clinical manifestations and cytogenetic details of a de novo partial deletion of the short arm of chromosome 8, del(8)(p23.1), and inversion of long arm chromosome 7, inv(7)(q11.2q32), are described. The case was a 22 month old girl referred to our cytogenetic laboratory due to many abnormal features such as congenital microcephaly, hypotonia, developmental delay, strabismus, highly arched palate, hypernatremia, hypermagnesemia and deafness. Chromosome analysis revealed 46,XX, inv(7)(q11.2q32),del(8)(p23.1) de novo karyotype. The concurrence of these two abnormalities has not been reported previously.
Cytogenetic Dept., Blood Transfusion Research Center, High Institute for Research and Education in Transfusion Medicine, Tehran, Iran. Frouz@nigeb.ac.ir
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Mahjoubi
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Nasiri
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Razazian
D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D007446:Chromosome Inversion; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D003638:Deafness / Q000235:genetics; D002658:Developmental Disabilities / Q000235:genetics; D005260:Female; D006801:Humans; D006955:Hypernatremia / Q000235:genetics; D007223:Infant; D007621:Karyotyping; D008831:Microcephaly / Q000235:genetics; D009123:Muscle Hypotonia / Q000235:genetics