RING CHROMOSOME 22: A REVIEW OF THE LITERATURE AND FIRST REPORT FROM INDIA
Mahajan S, Kaur A, Singh JR
*Corresponding Author: Dr. Anupam Kaur, Department of Human Genetics, Guru Nanak Dev University, Grand Trunk Road, Amritsar, Punjab, 143005, India; Tel.: +91-183-225-8802, Ext. 3447; Cell: +987-223-9393; Fax: +91-183-225-8863, 225-8820; E-mail: anupamkaur@yahoo.com
page: 55

CASE REPORT

The proband, a 5-year-old male with microcephaly and intellectual disability, was referred to the Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, Punjab, India, for cytogenetic investigations. He was born to healthy, non consanguineous parents aged 32 (mother) and 35 (father) years old, respectively. His older sister (9 years old) was normal. The pregnancy, delivery and neonatal period were uneventful. The mother had one spontaneous abortion and one of her pregnancies was terminated as the fetal heart was absent. The present subject presented delayed milestones with microcephaly. On examination, his head circumference was found to be 46 cm (normal 52.1 cm). Physical features included brachycephalic head, fl at face, pointed chin, almond shaped eyes, long eye lashes and epicanthal folds (Figure 1a). His ears were placed higher than the normal position and syndactyly of the second and third toes of right foot was present. He had hypotonia, absence of speech and only started walking at the age of 3 years. Autistic behavior and aggressive nature was also noted. A magnetic resonance imaging (MRI) and urine test for metabolic screening revealed no abnormality.



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