Chromosome 6q25 microdeletion syndrome
Alternate names[edit | edit source]
6q25 microdeletion syndrome; Deletion 6q25; Monosomy 6q25
Definition[edit | edit source]
6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.
Epidemiology[edit | edit source]
It has been clinically and molecularly characterized in 4 patients.
Cause[edit | edit source]
- This syndrome is caused by an interstitial deletion encompassing 6q25.2-q25.3.
- These de novo deletions were characterized by comparative genomic hybridization (CGH) microarray and fluorescence in situ hybridization (FISH).
- They have a variable size with the smallest region of overlap (SRO) of 3.52 Mb.
Signs and symptoms[edit | edit source]
- All of them presented with microcephaly, developmental delay, dysmorphic features and hearing loss, whereas two of them had agenesis of the corpus callosum.
- Dysmorphic features include midface hypoplasia, hypertelorism, broad nasal root and posteriorly rotated ears.
Clinical presentation[edit | edit source]
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms
- Global developmental delay
- Intellectual disability, mild(Mental retardation, borderline-mild)
- Microcephaly(Abnormally small skull)
- Sensorineural hearing impairment
30%-79% of people have these symptoms
- Abnormality of the pinna(Abnormally shaped ears)
- Abnormality of vision(Abnormality of sight)
- Agenesis of corpus callosum
- Downslanted palpebral fissures(Downward slanting of the opening between the eyelids)
- Epicanthus(Eye folds)
- Failure to thrive(Faltering weight)
- High palate(Elevated palate)
- Hypertelorism(Wide-set eyes)
- Low-set, posteriorly rotated ears
- Malar flattening(Zygomatic flattening)
- Plagiocephaly(Flat head syndrome)
- Short stature(Decreased body height)
- Wide nasal bridge(Broad nasal bridge)
5%-29% of people have these symptoms
- Abnormality of cardiovascular system morphology
- Camptodactyly of finger(Permanent flexion of the finger)
- Cleft palate(Cleft roof of mouth)
- Clinodactyly of the 5th finger(Permanent curving of the pinkie finger)
- External genital hypoplasia(Underdevelopment of external reproductive organs)
- Long philtrum
- Micrognathia(Little lower jaw)
- Neonatal hypotonia(Low muscle tone, in neonatal onset)
- Rocker bottom foot(Rocker bottom feet)
- Seizure
- Upslanted palpebral fissure(Upward slanting of the opening between the eyelids)
- Ventriculomegaly
Diagnosis[edit | edit source]
Chromosome disorders may be suspected in people who have developmental delays, intellectual disabilities and/or physical abnormalities.
Several types of genetic tests can identify chromosome disorders:
- Karyotyping
- Microarray (also called array CGH)
- Fluorescence in situ hybridization (FISH)
Treatment[edit | edit source]
Chromosome 6q25 microdeletion syndrome Resources | ||
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NIH genetic and rare disease info[edit source]
Chromosome 6q25 microdeletion syndrome is a rare disease.
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