Atypical microdeletion 22q11.2 in a patient with tetralogy of Fallot
نویسندگان
چکیده
The 22q11.2 microdeletion syndrome (22q11.2 DGS) is characterized by an extreme intrafamilial and interfamilial variability. main clinical features are congenital heart defects, palatal abnormalities, learning disability, facial dysmorphisms immune deficiency. In 85–90% of cases, the DGS caused a heterozygous ~3-Mb deletion, including TBX1 gene, considered one major genes responsible for defects. Individuals with atypical deletions at least breakpoint outside low copy repeats have been reported. Our patient child presenting tetralogy Fallot (TOF) deletion proximal to critical DiGeorge region. rearrangement was inherited from healthy mother spanned ~642–970 kb, encompassing DGCR6 PRODH, two novel possible candidate conotruncal
منابع مشابه
Patient with Tetralogy of Fallot
A 5-year-old boy with tetralogy of Fallot, near-atresia of the right ventricular outflow tract and large collateral arteries to the lungs underwent an infundibulectomy without closure of the ventricular septal defect. Further surgery required preliminary reduction of the collateral circulation. The collateral arteries were successfully occluded by metrizimide-filled balloons. There was no chang...
متن کاملlung perfusion spect: application in a patient with tetralogy of fallot and suspected pulmonary thromboemboli
a 22-year-old woman presented with acute left-sided pleuritic chest pain and dyspnea 6 days after surgery for revision of the stenotic central aortopulmonary shunt. she had a history of tetralogy of fallot (tof), pulmonary valve stenosis, ventricular septal defect and major aortopulmonary collateral artery. her waterston shunt was placed when she was 5 years old and stented and re-dilated after...
متن کاملAspergillus Fumigatus Endocarditis after Total Correction of Tetralogy of Fallot
There are few studies about post-cardiac surgery fungal infections especially by Aspergillus fumigatus. In this paper we report a case of Aspergillus fumigatus endocarditis after tetralogy of Fallot total correction (TFTC), and permanent pacemaker (PPM) implantation. A five-year-old female patient with current history of total correction of tetralogy of fallot was admitted in Rajaie Ca...
متن کاملAtypical Fibroxanthoma In a Patient with Xeroderma Pigmentosum
SUMMARY X. Pis a rare autosomal recessive genodermatosis characteriseJ by photophohia, severe solar sensitivity, cutaneous pigmentary changes, xerosis and early Jevdopment of mucocutaneous and ocular cancer particularly in sun exposeJ skin. Tumors whichinclude solar keratosis, cutaneous horn, keratoachanthoma, squamous and basal cell carcinoma, malignant melanoma and angioma may developeJ in...
متن کاملAtypical tetralogy of Fallot: a noncyanotic form with increased lung vascularity; report of four cases.
Only recently has the association of pulmonic stenosis with increased pulmonary blood flow been recognized. Four symptomatic infant cases are described in which the clinical diagnosis was large interventricular septal defect. Hemodynamic study showed the presence of associated pulmionici stenosis. Features suggesting that there is an overriding aorta in these patients, and that they, therefore,...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Genetics
سال: 2021
ISSN: ['0973-7731', '0022-1333']
DOI: https://doi.org/10.1007/s12041-020-01257-z