A baby girl is admitted to the Neonatal Intensive Care Unit shortly after birth. It was noted at delivery that the child had widely spaced nipples and webbing of the neck. Further evaluation noted a heart murmur, edematous feet, and difficulty palpating or locating the pulse in the groin. An echocardiogram is ordered, and the child is diagnosed with coarctation of the aorta (a narrowing of the aorta that causes the left ventricle of the heart to pump against higher resistance, which can lead to heart failure). As a result of the nature of the symptoms, a geneticist is consulted and the newborn is diagnosed with Turner syndrome. The family meets with the providers to discuss the ramifications of this diagnosis.

The APN explains that the child has an abnormal number of chromosomes. This particular syndrome is designated as

1. 45X karyotype
2. 47XXY karyotype
3. Trisomy 21
4. 5p minus

Explain your answer:

The APN explain that Turner syndrome is caused by:

1. Aneuploidy
2. Consanguinity
3. Pseudoautosomal region
4. X-linked recessive genes

Explain your answer:

 

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