Deletion Syndromes Flashcards
Deletion location for Wolf-Hirschhorn Syndrome
4p
Deletion location for William’s Syndrome
7q11.23
6 Clinical Features of Cri du Chat
High pitched cat like cry Downward slant to eyes Hypertelorism Micrognathia Low set abnormal ears Congenital heart defects
Intellectual disability in Cri du Chat
Moderate to severe
Delayed development of motor skills
7 clinical features of Wolf-Hirschhorn syndrome
Flatten nasal bridge High forehead Hypertelorism Short philtrum Down turned mouth Poorly formed ears Cleft palate
Intellectual disability in Wolf-Hirschhorn syndrome
Mild to severe
5 clinical features of 22q11
Cleft palate Immune problems Hearing loss Decreased calcium in the blood causing seizures Breathing, heart, kidney problems
Intellectual disability in 22q11
Learning difficulty
Increased risk for schizophrenia, depression, anxiety, ADHD, autism
7 clinical features of Del 1p36.3 syndrome
Straight eyebrows Deep set eyes Midface retrusion Long philtrum Pointed chin Hypotonia Seizures
Intellectual disability in Del 1p36.3 syndrome
Severe learning difficulties
Developmental delays
5 clinical features of William’s Syndrome
Clinodactyly Short stature compared to family Sunken chest Flattened nasal bridge Cocktail party personality
Intellectual disability in William’s syndrome
Mild to moderate
Easily distracted
Delayed speech
Learning disorders common
Deletion location for Cri du Chat
5p
