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De novo terminal deletion of chromosome 7 [46,XX,del(7)(q35)]
Journal of Paediatrics and Child Health
|August 1, 1996
Abstract
Objective:
To report a new case of de novo 7q deletion distal to q35.
Methodology:
Developmental, cytogenetic and audiological investigations were carried out in the assessment of this rare chromosomal condition.
Results:
Moderate developmental delay, mild congenital microcephaly, growth retardation and conductive hearing impairment were found for this case of 46,XX,del(7)(q35).
Conclusions:
The phenotype of 7q terminal deletion is highly variable.