2q37 monosomy
Sign in to saveAlso known as BDMR, Brachydactyly-intellectual disability syndrome, Monosomy 2q37-qter, Del(2)(q37), Albright hereditary osteodystrophy type 3, Albright Hereditary Osteodystrophy-Like Syndrome, Brachydactyly Mental Retardation Syndrome, Brachydactyly-Mental Retardation Syndrome
Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism
Research
101 papers- Genotype-Phenotype Correlation of Distal 2q37 Deletions.Cytogenetic and genome research · 2022
- Genotype-Phenotype Correlations in 2q37-Deletion Syndrome: An Update of the Clinical Spectrum and Literature Review.Genes · 2023
- Splenic Volvulus and 2q37 Deletion Syndrome.Journal of gastrointestinal surgery : official journal of the Society for Surgery of the Alimentary Tract · 2021
- Prenatal diagnosis of partial monosomy 2q (2q37.3→qter) and partial trisomy 10q (10q24.31→qter) of paternal origin associated with increased nuchal translucency and abnormal maternal serum screening results.Taiwanese journal of obstetrics & gynecology · 2020
- Deletion (2)(q37).American journal of medical genetics · 1994
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