Association of 22q11.2 deletion in children with congenital heart defects from Andhra Pradesh, India
Journal Title: Indian Journal of Research in Pharmacy and Biotechnology - Year 2014, Vol 2, Issue 4
Abstract
DiGeorge syndrome is a genetic disorder associated with chromosome 22q11.2 deletion and manifests with variable clinical findings. Most of the cases occur sporadically although vertical transmission has been documented. Children with microdeletion 22q11.2 and CHD are at high risk for mortality and morbidity. In this report we studied two unrelated male children with clinical features consistent with 22q11.2 microdeletion syndrome characterized by cardiac defect, facial dysmorphism and developmental deficiency. One of the cases also had trigonocephaly. Metaphase fluorescence in situ hybridization (FISH) analysis using TUPLE1 probes showed deletion of the 22q11.2 region in the patients, confirming the diagnosis of DiGeorge syndrome.
Authors and Affiliations
Syed Sunayana Begum, A. Venkateshwari, A. Srilekha, M. Sujatha, A. Jyothy and Mundluru Hema Prasad
Keywords
Related Articles
- EP ID EP33237
- DOI -
- Views 300
- Downloads 0
FORMULATION AND IN-VITRO EVALUATION OF TERBUTALINE SULPHATE SUSTAINED RELEASE TABLETS
Sustain release formulation maintain a constant level plasma concentration of drug so that multiple and night dosing can be avoided. Terbutaline sulphate is a β2 stimulant drug which is having a very short half life of...
TRANSDERMAL IONTOPHORESIS TECHNIQUE-A POTENTIAL EMERGING DRUG DELIVERY SYSTEM
The objective of delivery system is to achieve optimum therapeutic management. But, it still remains a challenge in the field of pharmaceuticals for delivery of ionic species such as proteins and peptides. Development...
RECENT TRENDS IN USAGE OF POLYMERS IN THE FORMULATION OF DERMATOLOGICAL GELS
Topical preparations can be applied directly to an external body surface by spreading, rubbing, and spraying. The topical route of administration has been utilized either to produce local effect for treating skin disor...
Structural properties of Zn1-xMnxO films
In recent years dilute magnetic semiconductors have paid much attention due to their complementary properties of semiconductors and ferromagnetic behavior. Zn1-xMnxO thin films have been prepared by chemical spray pyro...
Analytical method development and validation of simultaneous estimation of Metolazone and Spironolactone in bulk and pharmaceutical dosage form by RP-HPLC
This paper describes a novel, simple, precise, accurate, sensitive, rapid reversed-phase liquid chromatographic method for simultaneous estimation of Metolazone and Spironolactone in bulk and pharmaceutical dosage form...