We have located links that may give you full text access.
Chromosome 2 Microdeletion Syndrome in a Newborn with Amniotic Band Sequence.
We report a case of amniotic band sequence (ABS) with a 5 kilobase microdeletion at 2p15. The newborn was delivered with absence of the right hand and distal segments of the left digits, consistent with amniotic band sequence. The clinical findings included a lumbar meningocele, bilateral clubfeet, adrenal hypertrophy, microcephaly, and facial dysmorphism. Due to these congenital anomalies not directly associated with ABS, a SNP chromosomal microarray was ordered and identified a 51 kilobase deletion at 2p15, which includes two known genes, USP34 (ubiquitin specific protease 34) and SNORA70B (small nucleolar RNA H/ACA box 70B). The clinical significance of this specific deletion is unknown at this time; however, there have been several case reports with a larger deletion which include these two genes and have been shown to affect neurodevelopment.
Full text links
Related Resources
Trending Papers
Heart failure with preserved ejection fraction: diagnosis, risk assessment, and treatment.Clinical Research in Cardiology : Official Journal of the German Cardiac Society 2024 April 12
Proximal versus distal diuretics in congestive heart failure.Nephrology, Dialysis, Transplantation 2024 Februrary 30
Efficacy and safety of pharmacotherapy in chronic insomnia: A review of clinical guidelines and case reports.Mental Health Clinician 2023 October
World Health Organization and International Consensus Classification of eosinophilic disorders: 2024 update on diagnosis, risk stratification, and management.American Journal of Hematology 2024 March 30
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app
All material on this website is protected by copyright, Copyright © 1994-2024 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.
By using this service, you agree to our terms of use and privacy policy.
Your Privacy Choices
You can now claim free CME credits for this literature searchClaim now
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app