3q26q27 microdeletion syndrome

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Synonyms: Del(3)(q26q27) | Monosomy 3q26q27

A rare partial autosomal microdeletion syndrome characterized by neonatal hypotonia prenatal and postnatal growth deficiency severe feeding difficulties global developmental delay and intellectual disability dental anomalies (delayed tooth eruption delayed loss of primary teeth dental crowding) recurrent respiratory infections thrombocytopenia and facial dysmorphism (flat facial profile medially sparse eyebrows epicanthal folds flat nasal bridge and tip short philtrum). Behavioral abnormalities (ADHD Asperger syndrome) have also been reported.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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3q26q27 microdeletion syndrome?

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