Microdeletion Syndrome 21q22
| Classification according to ICD-10 | |
|---|---|
| Q93.5 | Other deletions of a part of a chromosome |
| ICD-10 online (WHO version 2019) | |
The microdeletion 21q22 is a very rare congenital disease with the main characteristics of Pierre Robin Syndrome , persistent congenital thrombocytopenia , agenesis of the corpus callosum , facial dysmorphia and significant developmental retardation .
Synonyms are: Del (21) (q22.11q22.12); Microdeletion syndrome 21q22.11-q22.12; Monosomy 21q22.11-q22.12; Braddock-Carey Syndrome
The name refers to the authors of the first description from 1994 by the American paediatricians Stephen R. Braddock and JC Carey.
The disease should not be confused with Braddock Syndrome .
distribution
The frequency is given as less than 1 in 1,000,000, nothing is known about an inheritance mechanism.
root cause
It is based on a microdeletion in the DSCR, Down syndrome critical region on chromosome 21 on q22 with the involvement of neighboring genes , hence the designation microdeletion syndrome 21q22.11-q22.12; Monosomy 21q22.11-q22.12 . In particular, the RUNX1 (runt-related transcription factor 1) gene was identified in this microdeletion syndrome .
Clinical manifestations
Clinical criteria are:
- Growth retardation already prenatally , later continuing
- Manifestation as a newborn or toddler
- Short stature
- Mental disability
- Speech development disorder
- Thrombocytopenia
- Facial abnormalities such as microcephaly , deeply attached ears, wide nose
diagnosis
The diagnosis results from the combination of clinical changes and, if necessary, the findings in the magnetic resonance imaging of the brain .
Individual evidence
- ↑ a b c Microdeletion Syndrome 21q22. In: Orphanet (Rare Disease Database).
- ^ SR Braddock, JC Carey: A new syndrome: congenital thrombocytopenia, Robin sequence, agenesis of the corpus callosum, distinctive facies and developmental delay. In: Clinical dysmorphology. Volume 3, Number 1, January 1994, pp. 75-81, PMID 7515754 .
- ^ SR Braddock, ST South, JD Schiffman, M. Longhurst, LR Rowe, JC Carey: Braddock-Carey syndrome: A 21q22 contiguous gene syndrome encompassing RUNX1. In: American journal of medical genetics. Part A. Volume 170, number 10, 10 2016, pp. 2580-2586, doi: 10.1002 / ajmg.a.37870 , PMID 27549381
- ↑ RUNX1. In: Online Mendelian Inheritance in Man . (English)
