Metric analysis of the hard palate in children with Down syndrome: a comparative study.

The hard palate is viewed as playing an important role in the passive articulation of speech. Its probable role in the defective articulation of speech in individuals with Down syndrome has been examined in the present study. In individuals with Down syndrome, the hard palate is highly arched, constricted, and narrow and stair type with malformed misaligned teeth and a large and fissured tongue.

Cytogenetic studies in amenorrhea.

Objective: To study the frequency of the chromosomal abnormality (CA), referred for karyotyping, and counseling in individuals with primary amenorrhea (PA) and secondary amenorrhea (SA).

Methods: We report on a retrospective survey of 865 women with amenorrhea (620-PA and 245-SA) at the Division of Human Genetics, Department of Anatomy, St. John's Medical College, Bangalore, India from 1973 to 2005.

A novel human sex-determining gene linked to Xp11.21-11.23.

Context: The molecular basis for about 70-80% of 46,XY sex-reversed females remains unexplained, because they carry normal copies of the genes (SRY, SOX9, DAX1, DMRT, SF1, WT1) involved in sex determination pathway.

Objective: The objective of this study is to map the chromosomal locus responsible for an unexplained sex-reversed phenotype.

Design: The study implemented a genome-wide scan using families with multiple sex-reversed individuals.

Dermatoglyphics in rheumatoid arthritis.

Patients with rheumatoid arthritis have been referred to Division of Human Genetics for counselling. Qualitative dermatoglyphics comprising of finger print pattern, interdigital pattern, hypothenar pattern and palmar crease were studied on 26 female and 11 male rheumatoid arthritis patients. Comparison between patient male and control male; and patient female and control female has been done.