WebWe herein, describe two patients diagnosed with Class I 17p13.3 microduplication by BACs-on-Beads (BoBs) assay and further confirmed by fluorescence in situ hybridization … WebDolan et al. (2010) described 1 patient with a microduplication in 19p13.13. This patient was born at 36 weeks' gestation and presented at 2 months of age with feeding …
Chromosome 22q13.1 Duplication Syndrome – CheckOrphan
Web1q21.1 duplication syndrome or 1q21.1 (recurrent) microduplication is a rare aberration of chromosome 1. [citation needed]On chromosome 1, a human cell typically has one pair of identical chromosomes. One of the pair of chromosomes in the 1q21.1 duplication syndrome is overcomplete because a portion of its sequence has been duplicated twice … WebJan 10, 2024 · INTRODUCTION. Microduplications, or submicroscopic duplications, are chromosomal duplications that are too small to be detected by light microscopy … shoe stores 29707
15q11-q13 duplication syndrome: MedlinePlus Genetics
WebMar 9, 2024 · The duplication was found in 1 of 4,737 controls. Brunetti-Pierri et al. (2008) suggested that the HYDIN paralog located on chromosome 1q21 (HYDIN2; 610813) is a dosage-sensitive gene responsible for the macrocephaly seen in 17 microduplication carriers studied by them. The authors also implicated the HYDIN2 gene in the … WebMutations in CDK13 have recently been identified as a novel cause of syndromic intellectual disability. In this chapter, we review the 44 cases of CDK13-related disorder reported to … WebDuplication Patients. Dolan et al. (2010) described 1 patient with a microduplication in 19p13.13. This patient was born at 36 weeks' gestation and presented at 2 months of age with feeding problems, constipation, frequent vomiting, and marked irritability. At 14 months his weight, length, and OFC were all below the 5th percentile. shoe stores 28269