Mutations or deletions of the SHOX gene, located in the PAR1 region, are involved in idiopathic growth retardation. The SHOX gene escapes X inactivation in females. The growth failure of Turner Syndrome (X0) females is most likely the result of the presence of only one SHOX gene copy in each diploid cell (haploinsufficiency). The tall stature observed in Klinefelter (XXY) syndrome and in Triple...

Women with X chromosome aneuploidy such as 45,X (Turner syndrome) or 47,XXX (Triple X syndrome) present with a range of characteristics including differences in stature, an increased risk of cardiovascular disease and premature ovarian insufficiency. Many women with X chromosome aneuploidy undergo lifetime clinical monitoring for possible complications. However, biased ascertainment of cases ma...

the main disorder are due to sex chromosomal aberration comprising 2644(82.5%), cases ranging from 1211  klinefelter followed by 1025 turner  syndrome, 345 triple x, 49 double y and 14 cases of xx male. the second group consists 116 cases of gonadal dysgenesis bearing 0.042 risk of malignant transformation for xy gonadal dysgenesis. the 3rd group is hormonal defects consisting 29 cases of conge...

Objective To explore the feasibility of high-throughput massively parallel genomic DNA sequencing technology for the noninvasive prenatal detection of fetal sex chromosome aneuploidies (SCAs). Methods The study enrolled pregnant women who were prepared to undergo noninvasive prenatal testing (NIPT) in the second trimester. Cell-free fetal DNA (cffDNA) was extracted from the mother's peripheral ...

Triple A syndrome (Allgrove syndrome) is an autosomal recessive disorder consisting of achalasia, alacrima and Addison insufficiency. We report an 11-year-old girl with predominant symptom of achalasia who was diagnosed as Triple A syndrome almost 3 years after initial presentation.

Triple A (Allgrove) syndrome is characterized by achalasia, alacrima, adrenal abnormalities and a progressive neurological syndrome. Affected individuals have between two and four of these relatively common clinical problems; hence the diagnosis is often difficult in all but the classical presentation. The inheritance is autosomal recessive, and most cases of triple A have no family history. Us...

a role of adenosine in pathogenesis of syndrome x has recently been postulated. previous studies suggest that aminophylline (an adenosine receptor blocker) improves exercise tolerance in this disorder. present study was performed to examine the efficacy of theophylline in syndrome x and to determine the incidence of cardiovascular risk factors and clinical, ecg and angiographic findings in thes...

1. The chromosomal abnormality in Down's syndrome is A. Trisomy 18 B. Trisomy 21 C. 47 XXY D. Monosomy X 2. The commonest congenital cardiovascular abnormality in Down's syndrome is A. Patent ductus arteriosus B. Coarctation of aorta C. Tetralogy of Fallot D. Atrioventricular septal defect 3. A smaller tracheal tube may be required in Down's syndrome due to: A. Inadequate mouth opening B. Sub-g...

Here we report a case of double aneuploidy showing trisomy 21 and triple-X chromosome in a case of Down syndrome born to young non-consanguineous parents. The child presented with strabismus, periorbital swelling, scanty eyebrows and microganthia in addition to Down features. Molecular characterization has shown the maternal origin of double aneuploidy with trisomy 21 at meiosis-II and triple-X...