A&P Basics                BIOL 2404                  Case Study: Development       Dr. Weis

Medical Associates                                                    Clinical Pathology Report

Signalment:

48 year old primipara female at 18 weeks of gestation

Procedure:

Transabdominal amniocentesis using ultrasound guided aspiration.

20 mls of amnionic fluid were submitted for culture for prenatal diagnosis of

genetic abnormalities.

Results:

Cytogenic analysis and staining of chromosomes revealed several aneuploides

            Trisomy 21

            Additional X sex chromosome to the XY

Interpretation:

            Male fetus with Down’s Syndrome and Klinefelter’s Syndrome

Suspected Clinical Outcomes for Male fetus:

            Mental Retardation

            Epicanthal Folds

            Congenital heart defect

            Hypotonia

            Hypogonadism

Recommendations:

            Genetic counseling