Question

A Caucasian newborn with facial dysmorphia and cleft palate in found to have a deletion involving the long arm of chromosome 22. These findings are most consistent with:

A. Kartagener's syndrome
B. Tuberous sclerosis
C. DiGeorge syndrome
D. Friedreich's ataxia
E. Marfan syndrome
F. Down syndrome
G. Turner's syndrome.

Answer 1

The findings are most consistent with DiGeorge syndrome (option C). DiGeorge syndrome is a genetic disorder characterized by various physical abnormalities, including facial dysmorphia and cleft palate, caused by a missing segment of genetic material on chromosome 22.

Step-by-step explanation:

The findings of a Caucasian newborn with facial dysmorphia and cleft palate and a deletion involving the long arm of chromosome 22 are most consistent with DiGeorge syndrome (option C).

DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a genetic disorder caused by a missing segment of genetic material on chromosome 22. It is characterized by various physical abnormalities, including facial dysmorphia, cleft palate, heart defects, and immune system problems.

Additionally, DiGeorge syndrome can result in developmental delays and learning difficulties. Prompt diagnosis and appropriate medical management can help individuals with DiGeorge syndrome lead fulfilling lives.