Cri Du Chat Syndrome
by Michele Torres
1. Abnormalities of Chromosomal Structure
1.1. Caused from genetic deletion from small arm (P arm ) on chromosome 5
1.1.1. Extremely rare
1.1.1.1. Specific gene believed to be lost is CTNND2
1.1.1.1.1. Thought to be random event, not inherited
2. Causes:
2.1. Broken Chromosomes
2.1.1. Loss of DNA
2.1.2. One abnormal gamete meets with normal gamete to form zygote
2.1.2.1. Many genes lost in deletion even though one copy of chromosome is formed properly
3. Recognized by characteristic "cry of the cat"
3.1. Low birth weight
3.1.1. Microcephaly
3.1.1.1. Severe mental retardation
3.1.1.1.1. Hypertelerosim
4. Treatment options
4.1. No cure
4.1.1. Palliative care such as speech and physiotherapy
4.2. Behavioral modification for severe learning disorders
5. Diagnosis
5.1. Difficult but based on symptoms, lab testing, genetic testing, and exam of patient
6. Prognosis
6.1. Most have normal life expectancy
6.1.1. Some born with multiple organ anomalies , suffering poor prognosis