Chromosome 9q duplication syndrome. 9q+ syndrome. Trisomy 9q.
Incidence
Very rare syndrome. Sporadic.
Clinical Characteristics
Duplication of the long arm of chromosome 9 with psychomotor retardation, deeply-set eyes, microdolichocephaly, beaked nose, and microretrognathia. Depending on the length of the deleted segment, additional features may include small mouth, large ears, finger abnormalities, limited joint movement, failure to thrive, congenital heart defects, and other anomalies. Longer deletions are more likely to develop life-threatening malformations than shorter ones. Duplication 9q34 is sometimes considered as a separate entity which is characterized by slight psychomotor retardation, limited speech capacity, hyperactivity, feeding difficulty, failure to thrive, joint contractures, finger abnormalities, erythema, heart murmur, blepharoptosis, strabismus, dolichocephaly, facial asymmetry, narrow palpebral fissures, microphthalmia, and downturned corners of the mouth.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
Karyotype. Duplication of the long arm of chromosome 9.