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Assignment Questions

genetics

A newborn girl is brought into the genetics department for a karyotype study. She was born of a 50y/o mother who feels that her child is developmentally retarded with characteristics “mongoloiddge” facial features; her pregnancy was uneventful.

On physical examination, the child presents with generalized hypotonia; flattened face and low set ears; macroglossia; flattened nasal bridge and epicanthal folds;; single transverse palmar crease with widely split fixed S2 (due to an atrial septal defect).

Karyotype reveals 47, XX; trisomy 21

On gross pathology, the child has brachycephalic head; small brain with shallow sulci; hypoplasia of frontal sinuses; endocardial cushion defect.

Imaging: double bubble (dilated stomach and proximal duodenum) due to duodenal atresia.

X-ray is unsignificant (plain); hypoplastic middle and terminal phalanges of fifth digits (Acromicria).

1) Please provide four (4) nursing differential diagnoses for this case

2) Please design a short term nursing management for the patient

3) Please provide a long term management for the patient.

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