Cri du Chat Syndrome
Alternate Names : 5p Minus Syndrome, Cat Cry Syndrome, Chromosome 5p Deletion Syndrome
Cri du Chat Syndrome Diagnosis & Tests
In addition to the other findings (listed with Symptoms), physical examination may show:
- inguinal hernia.
- diastasis recti (separated abdominal muscles)
- low muscle tone.
- epicanthal folds, an extra fold of skin over the inner corner of the eye
- incompletely or abnormally folded external ears.
- karyotyping (chromosome analysis) should show a missing portion of the short arm of chromosome 5. If it does not, a more detailed type of genetic test (FISH analysis) may reveal that a small piece of this chromosome is missing.
- lateral skull X-ray may show an abnormal angle to the base of the skull.
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