A Newborn Girl Is Evaluated in the Nursery After an Uncomplicated

question 77

Multiple Choice

A newborn girl is evaluated in the nursery after an uncomplicated spontaneous vaginal delivery to a 29-year-old primigravida.  The mother declined prenatal testing and ultrasound examination during the pregnancy.  Her pregnancy was otherwise uneventful, and she took prenatal vitamins throughout.  Examination of the neonate shows a posterior neck mass and bilateral nonpitting edema of the hands and feet.  Femoral pulses are diminished.  Neck ultrasound reveals a mass composed of cystic spaces separated by connective tissue.  Which of the following is the most likely underlying mechanism responsible for this patient's condition?

• A)21-hydroxylase deficiency
• B)Androgen receptor mutation
• C)Loss of paternal chromosome X
• D)Meiotic nondisjunction of fetal chromosome 18
• E)Partial deletion of the short arm of chromosome 5
• F)Robertsonian translocation involving fetal chromosome 21

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Definitions:

Syntax

The set of rules, principles, and processes that govern the structure of sentences in a given language, especially the order of words.

Decontextualized Language

Language that is understood without the need for visual context or situational cues, typically more abstract and formal.

Overgeneralization

The cognitive error of applying a general rule too widely, often leading to incorrect conclusions or misapplications.

Distinguish Sounds

The ability to recognize or differentiate auditory stimuli.