The 47,XXX karyotype is a rare sex chromosome anomaly. This karyotype is usually not associated with a characteristic physical phenotype. In the presented case, a triple-X girl patient associated with 11beta-hydroxylase deficiency is identified. The case was referred to the Endocrinology Unit at six days of age because of ambiguous genitalia. The karyotype in this case was 47,XXX, an unexpected...

Venous malformations are a common form of vascular anomaly that cause pain and disfigurement and can be life threatening if they involve critical organs. They occur sporadically or in a familial form, where multiple lesions are usually present. We have identified a large kindred showing autosomal dominant inheritance of venous malformations. Using this family we confirm linkage of a familial fo...

We report a case of double male syndrome, a type of Klinefelter's syndrome with 48,XXYY chromosome, associated with acromegaloidism. Although the patient presented acromegalic appearance, he did not show hypersecretion of growth hormone (GH). GH provocation tests revealed a rather low GH responses or no responses. After testosterone therapy, the GH responses were normalized except to Insulin to...

Meiosis is an event of high evolutionary stability that culminates in a reduction of chromosome number. Several abiotic environmental factors such as heat may cause anomalies at genetic level that ultimately impair fertility of the plant. In the present study, the effect of heat stress on various morphological and cytological parameters has been studied in Lathyrus sativus. The most interesting...

using criteria put forth by Verloes [1], patients with CHARGE syndrome show varying phenotypes that considerably overlap those of other syndromes such as Kallmann syndrome, VACTERL association (vertebral anomalies, anal atresia, cardiac defects, tracheoesophageal fistula, esophageal atresia, renal anomalies, and limb defects), and 22q11.2 deletion syndrome [3,6,7]. Chromosome 22q11.2 deletion i...

48 XXYY is a sex chromosome tetrasomy condition which causes tall stature, hypergonadotrophic hypogonadism, facial dysmorphism, developmental delay and behavioural difficulties. Over 100 cases have been published in the literature but there is little information on the ophthalmic findings in these patients. Previously reported ophthalmic findings have included Duane anomaly, high myopia and ret...

A complete hematologic remission was achieved in a patient with therapy-related preleukemia and transfusiondependent pancytopenia after treatment with recombinant human granulocyte-macrophage colony-stimulating factor (GM-CSF). The patient remained in remission for nearly 1 year despite the discontinuation of GM-CSF treatment. Several lines of evidence suggest that normal hematopoiesis was rest...

There are striking contrasts when the apparent origin of the 45,X anomaly is compared with most trisomic conditions, and recent work gives interesting clues to the causes of sex-chromosome monosomy. Except for a small proportion of cases arising from secondary non-disjunction of primary trisomic subjects-or cells-and a further group of segregational examples arising from centric fusion heterozy...

Note -7/del(7q) in childhood blood malignancies exhibits a specific pattern of pathogenesis; chromosome 7 anomalies are not rare in acute lymphocytic leukaemia (ALL); they occur in balanced translocations involving 7p15 or 7q34 in T lineage and 7q22 or 7q32 in B proliferations; monosomy 7 is present in 5 to 6 % of ALL, most often as a secondary anomaly of the t(9;22); the association t(9;22), -...

A metacentric bisatellited microchromosome was detected in all metaphases from an amniotic culture performed because of maternal age. A wide-ranging survey of the literature failed to disclose any consistent anomaly associated with such a marker, but did reveal that the clinical picture of patients manifesting it could range from complete normality through mental retardation to a variety of def...