A Case with Emanuel Syndrome Resulting from a Maternal Balanced Translocation
Journal of Genetic Medicine
;
: 35-37, 2012.
Article
in English
| WPRIM
| ID: wpr-66742
ABSTRACT
Emanuel syndrome is a rare genomic syndrome which is characterized by multiple congenital anomalies and developmental disability. This syndrome is related to the presence of the supernumerary derivative chromosome originating from both chromosome 11 and 22. In most cases, one of the parents is a balanced carrier of a translocation. Our case results from 31 meiotic segregation of the maternal translocation carrier and is a rare case in Korea confirmed by genetic analysis.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Parents
/
Congenital Abnormalities
/
Chromosomes, Human, Pair 11
/
Developmental Disabilities
/
Cleft Palate
/
Chromosome Disorders
/
Heart Defects, Congenital
/
Korea
/
Intellectual Disability
/
Muscle Hypotonia
Limits:
Humans
Country/Region as subject:
Asia
Language:
English
Journal:
Journal of Genetic Medicine
Year:
2012
Type:
Article
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