We Offer Diagnostic and Treatment Facilities for
1. Chromosomal disorders
Numerical anomalies
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.
- Turner syndrome
- Klinefelter syndrome
- Trisomy 13
- Trisomy 18
Structural anomalies
- Translocations
- Inversions
- Deletions
- Duplications
Microdeletions
- Velocardiofacial syndrome Williams syndrome
- Wolf Hirschhorn syndrome
- Smith Meganis syndrome
- 1p 36 deletion syndrome
2. Syndromic Disorders
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:
- Tuberous sclerosis
- Neurofibromatosis Type I
- Noonan syndrome
- Fragile X syndrome
- Cornelia de Lange syndrome
- Prader willi syndrome
- Syndromes with craniostenosis – Apert, Crouzon, Carpenter
- Smith Lemli Opitz syndrome
- Goldenhar syndrome
- Ectodermal dysplasia
- CHARGE association
- VACTRAL anomaly
- Marfan syndrome
- Ellis Van Creveld syndrome
- Kabuki make up syndrome
- Russel Silver syndrome
- Syndromes with associated deafness – Usher syndrome, Waardenberg, Pendred, Apert, Stickler syndrome
Neurocutaneous syndromes
3. Skeletal Dysplasias
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.
- Achondroplasia
- Hypochondroplasia
- Osteogenesis imperfecta
- Metaphyseal dysplasias
- Familial rickets
- Spondyloepiphyseal dysplasia congenital
4. Storage Disorders
Children with neurodevelopmental delay or regression with visual or hearing impairment and physical bony deformities constitutes this group
- Mucopolysaccharidosis - Hurlur, Hunter, Morquio, Sanfilippo
- Glycogen storage disorders
- Niemann pick disease, Gaucher’s disease
- GM1 gangliosidosis
5. Neurodegenerative Disorders
- Metachromatic leukodystrophy
- Sialidosis
- Hallervorden Spatz syndrome
- Ataxia Telangiectasia
- Frederich’s Ataxia
- Heriditary ataxias
- Sandhoff disease
- Tay Sach’s disease
Prenatal Diagnosis
This group encompasses the most important beneficiaries of the services of this department
- Previous baby with Down syndrome
- If either of a parent is a translocation carrier
- Previous baby with Neural tube defect
- Couple with children having mental retardation, storage disorders
- Previous baby affected with spinal muscular atrophy
- Elderly pregnant women, especially over 35 years
- Neuromuscular disorders in elder child, eg - Duchenne muscular dystrophy
- Couple who are consanguineous and are carriers of enzyme defects - Thalassemia,
sickle cell anemia, pyruvate kinase deficiency
- Couple with babies having inborn errors of metabolism
- Couple with children affected with neurodegnerative disorders
- Couple with history of recurrent miscarriages and those who have conceived following the treatment for infertility
Adult Genetic Services
- Clinical diagnosis is offered to adult genetic disorders and the confirmation of diagnosis is offered with the
help of mutation study of DNA sample for future management and counseling
- Evaluation of primary amenorrhoea
- Evaluation of couple with infertility
- Couple with recurrent abortions for any chromosomal carrier state
- Huntington’s chorea
- Myotonic dystrophy
- Ehlers Danlos syndrome
- Evaluation of familial cancers – Familial adenomatous polyposis, familial breast cancer, Familial
Colon cancers, Multiple endocrine Neoplasias (MEN)
Specialty Clinics
| Genetic Clinic |
Monday, Wednesday, Friday |
| Prenatal Clinic |
Tuesday |
| Down syndrome and Genetic review Clinic
| Thursday |
| Counseling day |
Saturday |
News and Events
October 11, 2011
American Journal of Medical Genetics publishes paper on a new syndrome named after Amrita’s Dr. Sheela Nampoothiri
Read More
April 4, 2011
Amrita doctors participate in interactive audio conference on Anderson – Fabry Disease – A Treatable Cause of Renal Disease
Read More
March 21, 2010
Prathyasa, a support group for parents having children with Down’s syndrome inaugurated on International Down’s Syndrome Day
Read More
Our Faculty
Dr. Sheela Nampoothiri, MBBS, DCH, Dip NB (Paed), MSc Medical Genetics (Glasgow)
Clinical Professor and Head
Contact Us
Phone Numbers : 0484 - 2854050 / 4004050
Email Address : pediatricgenetics@aims.amrita.edu
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