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Posted by Dr. Han Thi Thu Huong - Medical Genetics Division, Vinmec High-Tech CenterChromosome 14 is a very rare chromosomal disorder. Infants and children carrying chromosome 14 often have psychomotor retardation, physical and mental retardation, and epilepsy.
Everything you need to know about chromosome 14 . disorder
This disorder is characterized by craniofacial abnormalities including microcephaly, high forehead; elongated face; ocular hypertelorism; thin upper lip; flat nose bridge with prominent nose tip; large ears, located lower than usual. Chromosome 14 seems to affect males more than females. There have been more than 50 cases reported in the medical literature.
Chromosome 14 is the result of the loss of genetic material at the ends of chromosome 14 after which the two ends rejoin to form a ring. Carriers of this abnormality may have different symptoms, depending on the amount of genetic material lost or the stability of the ring chromosome during subsequent cell division. Some evidence suggests that chromosome 14 may be the result of a small deletion on the long arm (q) of chromosome 14 (14q).
Chromosome 14 usually occurs by de novo of unknown origin very early in embryonic development. Parents of a child with a ring 14 chromosome usually have a normal set of chromosomes, and the probability of having another child with a chromosomal abnormality is low. However, if one of them also carries the ring 14 chromosome, there is a higher chance of having another child with this chromosomal abnormality.
NST vòng 14 thường xảy ra rất sớm trong quá trình phát triển phôi thai
Chromosome 14 can be diagnosed prenatally by ultrasound, amniocentesis and chorionic villus sampling (CVS) or postpartum on peripheral blood samples to perform cytogenetic tests such as Karyotyping ( Chromosome Formulation), FISH (Fluorescent In situ Hybrid), Array-CGH (Comparative Genome Hybridization)...
Specialized tests may also be performed to help with detection and characterization of some abnormalities that may be associated with the disorder such as electroencephalogram (EEG), computed tomography [CT], magnetic resonance imaging [MRI]...
Chromosome 14 affects very differently is individual, so treatment and interventions must be tailored to the individual needs of the patient. Treatment may require the coordination of a team of medical professionals such as a pediatrician; neurologist; cardiologist; orthopedic doctor; physiotherapists and other health care professionals.
Early intervention is important in helping children with ring 14 to develop normally. The main method is special education, other medical, social and vocational services. Genetic counseling is recommended for families with children carrying round 14 chromosomes.
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Article referenced source: rarediseases.org
