Professional Documents
Culture Documents
● 47XY18
● Longer legs, shorter torso and ○ Heart Defects
broader hips compared to other ○ Child is sterile
boys ○ Ovaries failed to develop
● Absent, delayed, and incompetent ○ Sex characteristics do not
puberty develop
● Small and firm testicles ● It only affects females.
● Small penis DIAGNOSTIC TESTS TO DETERMINE
● Enlarged breast tissue CHROMOSOMAL DISORDERS
○ GYNECOMASTIA ● KARYOTYPING
WOLF-HIRSCHHORN SYNDROME ○ Visualization of the
● A syndrome caused by chromosomes
irregularities on the short arm of ● Chorionic Villi Sampling
chromosome 4 (4p). ● Amniocentesis
● It is characterized by: ● Nuchal Translucency
● Intellectual activities ○ Ultrasound to assess
● Greek warrior helmet appearance thickness and fetus neck
of the nose and forehead and maternal blood draw
● As well as multiple defects ● Fetoscopy
○ Skeletal ○ Small camera and
○ Cardiovascular instruments passed into
○ Urogenital the amniotic sac to view
TURNER’S SYNDROME the fetus
● Newborn Screening.