1.
Indian J Hum Genet
;
2005 Jan; 11(1): 47-48
Article
in English
| IMSEAR
| ID: sea-143329
ABSTRACT
Cytogenetic analysis in 60 clinically suspected cases of Down syndrome and their parents was carried out using conventional Giemsa-trypsin-banding technique. Fifty-five individuals (91%) exhibited a free trisomy 21. Robertsonian translocations were seen in three cases and two cases exhibited a normal karyotype. A four-month-old child, the second-born of non-consanguineous parents, possessed an extra X chromosome in addition to trisomy 21. The proband's parents and his brother showed a normal karyotype. The phenotypic characteristics of this child have been discussed in the light of the published reports on double aneuploidies of XXY and trisomy 21.
2.
Indian Pediatr
;
1992 Oct; 29(10): 1305-9
Article
in English
| IMSEAR
| ID: sea-15890
Subject(s)
Arthrogryposis/diagnosis , Humans , Infant , Infant, Newborn , Male , Phenotype , Pterygium/diagnosis , Syndrome
3.
Indian Pediatr
;
1992 Jul; 29(7): 922-4
Article
in English
| IMSEAR
| ID: sea-14108