X Linked Disorder - Pediatric Oncall

4th Pediatric Infectious Diseases Conference

ISSN 0973 - 0958

Childhood Ailments

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	Specialist Answers
Question
I have a family mystery that has haunted us for 3 generations. My late Uncle's first family consisted of 4 boys and one girl. She was the firstborn, and normal. ALL 4 boys vegetated and died, the oldest living to be about 12. He and one other child did eventually walk a bit, but all were quickly diagnosed as abnormal once they stopped nursing. The ethnic background was from Norway. The first boy was also deformed. I looked at Storage illnesses, and anything carried only by mothers...but nothing I have researched fits. Can anyone offer a suggestion as to what killed all my cousins? He later married again and had a normal boy and girl. Thank you!
Answer
It definitely is a genetic disorder that is affecting the males since the girl is absolutely fine. Also, since your cousin married again and had normal children, it shows that is an X linked disorder where the defective gene is transmitted from the maternal side and the mother is a carrier and the sister may also be a carrier. What exactly was the problem with the children? Did they have a muscular dystrophy such as Duchenne's Muscular dystrophy or did they have any dysmorphic features? Storage disorders are usually autosomal recessive condition where each sibling (boy or a girl ) have 25% chance of having the disease. You need to go more into the pedigree chart on the maternal side and find out whether the maternal uncles were also affected. Finally chromosomal analysis in the form of linkage analysis would be useful. You need to consult a good geneticist to come to the right diagnosis. Please use the query form on www.pediatriconcall.com to ask queries as questions sent by email would tend to be ignored. Back to All Questions

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