A patient has a 2-year-old son with chronic pulmonary disease. His recent sweat test showed an elevated chloride level.
Match clinical situation described with the appropriate inheritance pattern.
Sickle cell anemia is an autosomal recessive condition that is common in people of African origin. In low-oxygen conditions, the red cells become distorted (sickle), and this can lead to vasoocclusive crisis causing severe pain. Glucose6-phosphate dehydrogenase (G6PD) deficiency is X-linked recessive and is found predominantly in males of African and Mediterranean origin.
Although the causes of clinical manifestations in G6PD deficiency are multifactorial (eg, sulfa drugs), the inheritance is not. Neurofibromatosis, whose occurrence is often sporadic (ie, a spontaneous mutation in 50%), is inherited as an autosomal dominant trait once the gene is in a family. The severity of the condition can be quite variable even within the same family. Cystic fibrosis is the most common autosomal recessive disorder in the white European population. Huntington disease is autosomal dominant.
Your patient’s father was just diagnosed with dementia associated with emotional disturbances and choreiform body movements. She was told his disease is hereditary.
Select the appropriate diagnosis or diagnostic indicator for the sonographic image shown below.
The diagnosis of osteogenesis imperfecta can be made by visualizing fractures in utero by ultrasound. The ultrasound image shows a crumpling of the tibia and fibula and curvature of the thigh such that proper extension of the foot does not occur.
The sonographic image was done at approximately 15 weeks’ gestation and shows two orbits, a mouth, and a central nose, but there is clearly no forehead and no cranial contents. Anencephaly is incompatible with life.
The sonographic image shows a 13-week-old fetus with a large NT (double arrows) and early hydrops, sometimes called a cystic hygroma. In the second and third trimesters, cystic hygromas are commonly associated with Turner syndrome (45, X). In early pregnancy, however, 50% of cases will be associated with a trisomy, usually trisomy 21, trisomy 18, or trisomy 13. Of those cases that are chromosomally normal, most of these nuchal translucencies disappear, and the fetus goes on to have perfectly normal development.
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