Question of the Week

Question :
Posted On : 13 May 2021
Two children boy and his sister are born with congenital deafness thier mother planing to get pregnant and she afraid to get another deaf baby. What is the investigation can I requist to know what is the course? What could be the cause and mode of inheritance, taking into consedration no plusve family history of delayed speech and language or deafness?
Expert Answer :
It will be helpful to differentiate a sensorineural hearing loss from a conductive by obtaining an audiogram. Are there other organ abnormalities or mental delays? There are many reasons for genetically inherited deafness. With one boy and one girl in the same generation, the autosomal recessive mode of inheritance may be at play. If there are other family members with deafness, please obtain a CGH (comparative genomic hybridization) array. This may be difficult to obtain and expensive. The risk of recurrence for the presumed autosomal recessive disorder is 1 in 25 but if this is polygenic inherited deafness, the risk of recurrence with two affected sibs can approach nearly 50 percent.
Answer Discussion :
Wael Hamza
Autosomal recessive
3 years ago
Rimamchirika Solomon
3 years ago

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