Question

Jim and Lisa have lived in the state of Minnesota most of their lives. They are both in their early 30's, recently married, and just had their first child. Daniella just turned a few days old. Jim and Lisa noticed the Daniella was not sensitive to sounds at all and almost never reacts to sound. Additionally, Daniella had trouble breathing as her nasal passages seemed to be undeveloped. Being concerned parents, Jim and Lisa brought Daniella to their doctor to talk about the things they have noticed. The doctor decided to take an ultrasound and found cysts on the kidneys and the abdominal walls was defected. Jim and Lisa told the doctor that Daniella has a lot of birthmarks. The doctor took a lot of measurements including the size of the birthmarks, size of Daniella’s head, and distance between her eyes. They noticed her head was smaller than average and her eyes were a lot closer together than average.
A.Patau Syndrome
B.Tay-Sachs Disease
C.Cystic Fibrosis
D.Turner Syndrome
E.Sickle Cell Anemia

Answer 1

Answer:

A. Patau Syndrome

Explanation:

Trisomy 13, also called Patau syndrome, is a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of the body. Individuals with trisomy 13 often have heart defects, brain or spinal cord abnormalities, very small or poorly developed eyes (microphthalmia), extra fingers or toes, an opening in the lip (a cleft lip) with or without an opening in the roof of the mouth (a cleft palate), and weak muscle tone (hypotonia). Due to the presence of several life-threatening medical problems, many infants with trisomy 13 die within their first days of life.