Description
This deletion is likely to cause phenotypic and developmental abnormalities. It includes two loci associated with syndromes. The first, 2q31.1 microdeletion syndrome, is a well-defined and clinically recognizable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism, and variable limb defects. Dysmorphic features include microcephaly, downslanting palpebral fissures, flat and long philtrum, micrognathia, and low-set and dysplastic ears. The spectrum of limb defects ranges from monodactylous ectrodactyly, brachydactyly and syndactyly to camptodactyly. The lower limbs tend to be more often and more severely affected than the upper limbs. The critical region encompasses the HOXD genes, haploinsufficiency of which results in the skeletal phenotype (OMIM 610713; PMID: 26185628, 21068127). The second syndrome is the 2q31.2q32.3 deletion syndrome (OMIM 612345). Common clinical features include pre- and postnatalgrowth retardation, severe intellectual disability, distinct facial dysmorphisms, thin and sparse hair, micrognathia, cleft or high palate, relative macroglossia, dacryocystitis (inflammation and infection of the tear sac), persistent feeding difficulties, inguinal hernia and broad-based gait (PMID: 20034071).
| # | Sample | Method | Observation |
|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences |
|---|
| 1 | unknown | unknown | not provided | not provided | not provided | | not provided | not provided | not provided | not provided |
