3q29 microdeletion syndrome

A recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.

Microcephaly

Head circumference below 2 standard deviations below the mean for age and gender.


Total: 2

                       


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PMID (PMCID)
29501613
 MIXED_SAMPLE Child
3q29 microduplication syndrome: Description of two new cases and delineation of the minimal critical region.
Tassano E, Uccella S, Giacomini T, Severino M, Siri L, Gherzi M, Celle ME, Porta S, Gimelli G, Ronchetto P.
Eur J Med Genet. 2018;61(8):428-433.
Heterogeneous clinical and neuropsychological features, such as intellectual disability, developmental and language delay, hypotonia, and, to a lesser extent, microcephaly that is present in about the half of the reported patients, characterize the 3q29 microduplication syndrome with usually a milder phenotype compared with the corresponding 3q29 microdeletion syndrome.
20197726
 FEMALE
[Identification of a novel deletion region in 3q29 microdeletion syndrome by oligonucleotide array comparative genomic hybridization].
Seo EJ, Jun KR, Yoo HW, Yoo HK, Lee JO.
Korean J Lab Med. 2010;30(1):70-5.
The 3q29 microdeletion syndrome is a genomic disorder characterized by mental retardation, developmental delay, microcephaly, and slight facial dysmorphism.