4th Pediatric Infectious Diseases Conference
 
 
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Specialist Answers
Question
I am trying to find a medical name or term for a birth condition where a child (female) is born without the 6th chromosome. Can you give me more specific guidance? Thank you so very much.
Answer
There are several anomalies associated with deletions of a particular gene on chromosome 6. One syndrome seen has facial anomalies, deafness, short little finger, short height and moderate mental retardation. Other syndrome seen may be cleft lip and cleft palate. So depending upon the region of the 6th chromosome affected and the type of defect, various syndromes may be seen.
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