Cytogenetic diagnosis of Roberts SC phocomelia syndrome : first report from Kashmir
Joint Authors
Pandith, Arshad A.
Dar, Fayaz A.
Zargar, Mahrukh H.
Malla, Tahir M.
Source
The Egyptian Journal of Medical Human Genetics
Issue
Vol. 17, Issue 1 (31 Jan. 2016), pp.137-140, 4 p.
Publisher
Egyptian Society of Human Genetics
Publication Date
2016-01-31
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
There are several syndromes in which specific mitotic chromosomal abnormalities can be seen, like premature centromere separation, premature (sister) chromatid separation, and somatic aneuploidies.
Identifications of such specific cytogenetic findings can be the key factor that leads towards the diagnosis of syndromes like Roberts SC phocomelia.
The case presented here as Roberts SC phocomelia syndrome was identified as a child with multiple congenital anomalies and dysmorphic features.
Conventional cytogenetic analysis of the case revealed premature sister chromatid separation.
The premature centromeric separation was also confirmed by C banding analysis of the child.
It is the first and the only case of Roberts SC phocomelia diagnosed from this part of the world.
The present case report emphasizes the importance of conventional cytogenetics in the diagnosis of such syndromes.
American Psychological Association (APA)
Malla, Tahir M.& Pandith, Arshad A.& Dar, Fayaz A.& Zargar, Mahrukh H.. 2016. Cytogenetic diagnosis of Roberts SC phocomelia syndrome : first report from Kashmir. The Egyptian Journal of Medical Human Genetics،Vol. 17, no. 1, pp.137-140.
https://search.emarefa.net/detail/BIM-655059
Modern Language Association (MLA)
Pandith, Arshad A.…[et al.]. Cytogenetic diagnosis of Roberts SC phocomelia syndrome : first report from Kashmir. The Egyptian Journal of Medical Human Genetics Vol. 17, no. 1 (Jan. 2016), pp.137-140.
https://search.emarefa.net/detail/BIM-655059
American Medical Association (AMA)
Malla, Tahir M.& Pandith, Arshad A.& Dar, Fayaz A.& Zargar, Mahrukh H.. Cytogenetic diagnosis of Roberts SC phocomelia syndrome : first report from Kashmir. The Egyptian Journal of Medical Human Genetics. 2016. Vol. 17, no. 1, pp.137-140.
https://search.emarefa.net/detail/BIM-655059
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 139-140
Record ID
BIM-655059