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Department of Paediatric Genetics at Amrita Hospital is the first of its kind in Kerala. We provide comprehensive evaluation and treatment for children affected with various genetic disorders. We offer the basic chromosomal analysis and metabolic workups for the delineation of genetic conundrums. Another major service, which is offered, is regarding the counseling of parents who have children with genetic problems.
We offer prenatal diagnosis to couples who are carriers of chromosomal anomalies, single gene disorders, enzyme deficiencies, metabolic disorders and skeletal dysplasias. We have close liaison with other departments in Amrita Hospital and with centers of excellence at UK & Glasgow for providing comprehensive care for our genetic patients.
The most common chromosomal disorder encountered is Down syndrome (Trisomy 21). In this condition instead of the normal 46 chromosomes the affected people have 47 chromosomes and an additional chromosome 21 constitutes the excess chromosome. The condition usually occurs in babies born to elderly mothers especially women over 35 years. This is the most common form of Down syndrome, 90 - 95% (Non disjunction type). Younger couple can also have babies with Down syndrome. Hence it is highly imperative to check the karyotype of the baby to classify the type as around 5% of babies would be having translocation type of down syndrome where there is swapping of materials between two chromosomes and the parents of these babies should be karyotyped for detection of translocation in either of them which would be highly beneficial for the future counseling in next pregnancy. Mosaics constitute a small percentage of Down syndrome, where the patient has two sets of chromosomal patterns in their body, one normal and the other with Trisomy 21.
Delineation of several syndromes according to their clinical features is very important for counseling the parents regarding the future intervention programs and for the possible prenatal diagnosis in future pregnancies. Some of the common syndromic disorders are:
This constitutes a group where the children have short stature associated with bony deformities. Characterization is very important as few types have specific therapies and is important for prenatal genetic counseling.
Children with neurodevelopmental delay or regression with visual or hearing impairment and physical bony deformities constitutes this group
The group encompasses the most important beneficiaries of the services of this department are:
|Genetic Clinic||Monday, Wednesday, Friday|
|Down syndrome and Genetic review Clinic||Thursday|