1.
Indian J Ophthalmol
; 2003 Dec; 51(4): 355-7
Article
in English
| IMSEAR
| ID: sea-70797
ABSTRACT
A case of congenital glaucoma with developmental delay and several dysmorphic features showing 22p+ chromosomal variant is reported.
Subject(s)
Abnormalities, Multiple/genetics , Chromosome Aberrations , Chromosomes, Human, Pair 22/genetics , Craniofacial Abnormalities/genetics , Glaucoma/congenital , Humans , Infant , Intraocular Pressure , Karyotyping , Male , Nucleolus Organizer Region/pathology
2.
Indian Pediatr
; 2002 Nov; 39(11): 1050-4
Article
in English
| IMSEAR
| ID: sea-10637
3.
Article
in English
| IMSEAR
| ID: sea-20993
ABSTRACT
Chorionic villus sampling (CVS) offers rapid prenatal diagnosis of chromosomal disorders. We evaluated four methods for chromosomal analysis of chorionic villi (three based on direct preparations and one on long-term culture) in order to define a method which would provide good quality metaphases in sufficient numbers. The direct culturing method using synchronisation and dissociation with dispase was as good as long-term culturing. The optimal period of gestation for study was 10-12 wk.
Subject(s)
Chorionic Villi Sampling , Chromosome Mapping , Cytogenetics/methods , Evaluation Studies as Topic , Female , Humans , Pregnancy , Time Factors
4.
Indian Pediatr
; 1992 Jul; 29(7): 929-34
Article
in English
| IMSEAR
| ID: sea-9889