25
Nov
3q27.1 deletion
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The reported cases of 3q26.33q22.7 deletions share a distinct phenotype, which includes intrauterine growth restriction (IUGR), intellectual disability (ID), microcephaly, feeding difficulties, hypotonia, post-natal short stature, facial dysmorphisms, thrombocytopenia and dental anomalies. Previously, a 1.2Mb smallest region of overlap (SRO) was identified including 46 protein-coding genes. The authors add 7... Read More
21
Nov
2026 Children’s Original Artwork Calendar
Our 2026 Children’s Original Artwork Calendar is available now! Visit our store to see the calendar and view t-shirts, mugs and more. Every calendar you buy directly supports Chromosome Disorder Outreach’s mission to connect, educate, and empower families navigating rare chromosome and gene mutation disorders. For over three decades, CDO... Read More
20
Nov
Trisomy 5p
Complete trisomy 5p is a rare chromosomal disorder in which the short arm of chromosome 5 is duplicated, resulting in a distinct clinical syndrome. According to Kim et al., only 12 cases of complete trisomy 5p were reported in the literature, 2 of which were prenatal. The authors present the... Read More
20
Nov
10p15.3 microdeletion syndrome
10p15.3 microdeletion syndrome is a rare condition with only 26 reported cases in the literature prior to the authors’ work. Abnormal facial features, global developmental delay (DD), intellectual disability (ID), short stature, hand and foot deformities, and congenital heart defects (CHDs) are all characteristics of the condition. The condition can... Read More
19
Nov
Balanced chromosomal insertions microstructural abnormalities
Chromosomal insertions often cause structural abnormalities that result in an overt phenotype and symptoms. However, those who carry balanced insertions can be asymptomatic when disease-causing genes are not disrupted. While the individual may not be affected, the balanced insertion could serve as an underlying mechanism for recurrent familial microstructural abnormalities... Read More
