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2q32q33 microdeletion syndrome

Orpha number ORPHA251019
Synonym(s) 2q32-q33 microdeletion syndrome
Del(2)(q32)
Del(2)(q32q33)
Monosomy 2q32
Monosomy 2q32-q33
Monosomy 2q32q33
Prevalence <1 / 1 000 000
Inheritance Not applicable
Unknown
Age of onset Infancy
Neonatal
ICD-10
  • Q93.5
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.

It has been described in fewer than 25 patients to date.

Facial features include downslanting palpebral fissures, low-set ears and prominent nasal bridge. Most patients also have a high-arched palate or cleft palate. Some individuals have an ectodermal dysplasia-like phenotype, with thin, transparent skin and abnormalities of the hair and teeth. A distinctive behavioral phenotype including hyperactivity, chaotic behavior and happy personality with periods of anxiety or aggression is emerging. This microdeletion was identified by comparative genomic hybridization (CGH) microarray. The size of the deletions is variable from 35 kb to 10.4 Mb. Haploinsufficiency of SATB2 is responsible for several of the clinical features.

Expert reviewer(s)

  • Dr Nicole MORICHON-DELVALLEZ

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