Chromosome 22q11.2 deletion syndrome, or DiGeorge syndrome, or velocardiofacial syndrome, is one of the most common multiple anomaly syndromes in humans. This syndrome is commonly caused by a microdelection from chromosome 22 at band q11.2. Although this genetic disorder may reflect several clinical abnormalities and different degrees of organ commitment, the clinical features that have driven ...

OBJECTIVE To estimate the incidence and type of chromosomal abnormalities in patients with primary and secondary amenorrhoea in Hong Kong. DESIGN Cytogenetic analysis and retrospective review. SETTING Clinical Genetic Service, Department of Health, Hong Kong. PATIENTS Case records of 549 patients with either primary (n=237) or secondary (n=312) amenorrhoea referred to the Clinical Genetic...

We report the results of imaging and cytogenetic studies in a case of triorchidism in a 54 years old male without any associated anomaly. A scrotal ultrasonography revealed the presence of two testes within the left hemiscrotum with complete septation and echotexture and vascular flow pattern similar to the vascular flow of the normal right testis. There was no focal abnormal echogenicity sugge...

The occurrence of balanced reciprocal translocation chromosome 1 and 7 is one the rare anomalies. present case report focuses on a 07-year-old male patient with craniofacial anomaly due to manifesting as microcephaly, microstomia, oligodontia scrotal hypospadias bilateral retractile testis. had severe retrognathic hyperdivergent mandible along multiple carious unerupted permanent teeth. After c...

The purpose of the clinical case was to describe combination chromosome abnormaliries in girl with malformations large intestine.Girl A., 1, 9 year old born prematurely. From birth, multiple stigmas dysembriogenesis: poor weight gain, absence an independent stool, marked delayed physical and psychomotor development attracted attention. During doppler echocardiography, a left-sided right- formed...

BACKGROUND Ebstein anomaly of the tricuspid valve is a congenital cardiac malformation characterised by downward displacement of the attachment of the septal and posterior leaflets of the tricuspid valve. Canine tricuspid valve malformation (CTVM) is morphologically similar to Ebstein anomaly; familial occurrence of CTVM has been described. Several observations suggest a genetic cause but most ...

to doing this research daily interpolated temperature data from asfezari data base have been used. in order to recognition extreme cold days, the normalized temperature deviation index (ntdi) applied. then the index sorted according to extensive and severity and first 500 days selected for analysis. the geopotential height data extracted from www.esrl.noaa.gov data base. the thickness anomaly c...