Produce a pedigree diagram to convey the information shown. Gill, has come along to the Genetic Clinic with her younger sister, Charlotte. They have been invited because Charlotte’s youngest child, Jamie, who is 10 months old, is experiencing multiple, recurring parallel infections. Jamie has two very healthy older
Produce a pedigree diagram to convey the information shown.
Gill, has come along to the Genetic Clinic with her younger sister, Charlotte. They have been invited because Charlotte’s youngest child, Jamie, who is 10 months old, is experiencing multiple, recurring parallel infections. Jamie has two very healthy older siblings, the eldest is his sister, Penny, and the middle child is his brother, Charlie.
Gill’s youngest child, her son, Tom, is only 18 months old but has been in constant contact with the hospital since he was born. He has had recurrent bouts of pneumonia, bronchitis, otitis, conjunctivitis, and sinusitis. He often has diarrhoea and, due to the incredible strain on his small body, he is failing to thrive. Thankfully his medical team were thorough in their investigations, and he has just been diagnosed with X-linked agammaglobulinemia. Tom has two older siblings, the youngest of whom, Ella, was conceived as a twin, though IVF, but her twin died in utero at about 9 weeks gestation.
You ask Charlotte to describe her family and she gives the following information: “Our Dad is healthy, our Mum is healthy, Gran and Grandad were healthy (although they have passed away now).”
You ask Charlotte to focus on her mother’s side of the family first, and so she continues: “My mum is one of four siblings; Aunt Grace (who is 64 now), Uncle Louis (who is 62 now), our Mum, then Uncle Michael (who is 56). They all married quite young.”
“Grace had identical twin girls. Phoebe, the first born, is pregnant with a boy at the moment. Lilah, the second born of the twins, is not married but she had 3 boys in 5 years, (Ronnie, then Solomon, then Riley), all with her partner, Tom. They are very healthy boys. Lilah and Tom have also recently adopted Alfie (who has Downs Syndrome). Their place is chaos but Lilah thrives on it.”
“Uncle Louis had two children, the first had polydactyly. I remember seeing it when he was born…freaky! Our Uncle Michael only had one boy child, he and his wife, Libby, were killed in a horrible car accident years and years ago.”
Charlotte asks whether you think that Jamie might have what Tom has and where it has come from. You reply by telling her that both her mother and sister carry the causative mutation, so, yes, it looks likely.
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