Problems/chromosomes Flashcards
Respiratory distress syndrome
Expiratory grunting, retractions, dec breath sounds, apnea, pallor, hypothermia, poor muscle tone.
Cyanotic congenital heart defect
Includes tetralogy of fallot. Compensatory mechanisms include tachycardia, polycythemia, and posturing. SnS- costal retractions, failure to thrive, clubbing of fingers, pale dusky cool skin.
Klinefelter’s syndrome
Presence of one or more additional X chromosomes in males. SnS- tall with long legs, hypogenitalism, sterility, gynecomastia, and poor psychosocial adjustment
Down’s syndrome
Trisomy 21. SnS- brachycephaly, inner epicanthal folds, broad, short hands with transverse crease, mental retardation
Turner’s syndrome
Females have only one X chromosome and 45 chromosomes. SnS- stunted growth, short stature, webbed neck, low posterior hairline, and shield-shaped chest