ABSTRACT
El Síndrome de Turner (ST) tiene una incidencia de 1/2500 a 1/3000 recién nacidos vivos y está determinado por la pérdida parcial o completa de un cromosoma X. El déficit de talla, desde la etapa pediátrica, y la amenorrea primaria, en la pubertad, constituyen los hallazgos clínicos más frecuentes de observar. Se presenta el caso de una paciente de16 años con ST en la cual se diagnosticó una acromegalia en el curso de su seguimiento.
Turner's syndrome(TS) affects approximately 1 out of every 2000 female live births, and is determined by the partial or complete loss of an X chromosome. Short stature in pediatric stage, and primary amenorrhea, at puberty, are the most frequent clinical features observed. We present a case of a16-year-oldpatientwith TS diagnosed with acromegaly during her follow-up.
ABSTRACT
INTRODUCTION: Williams-Beuren syndrome (WBS; OMIM 194050) is caused by a hemizygous contiguous gene microdeletion at 7q11.23. Supravalvular aortic stenosis, mental retardation, overfriendliness, and ocular and renal abnormalities comprise typical symptoms in WBS. Although fluorescence in situ hybridization is widely used for diagnostic confirmation, microsatellite DNA markers are considered highly informative and easily manageable. OBJECTIVES: This study aimed to test the microsatellite markers for the diagnosis of Williams-Beuren syndrome, to determine the size and parental origin of microdeletion, compare the clinical characteristics between patients with different sizes of the deletion and parental origin. METHODS: We studied 97 patients with clinical diagnosis of Williams-Beuren syndrome using five microsatellite markers: D7S1870, D7S489, D7S613, D7S2476 and D7S489_A. RESULTS AND DISCUSSION: Using five markers together, the result was informative in all patients. The most informative marker was D7S1870 (78.4 percent), followed by D7S613 (75.3 percent), D7S489 (70.1 percent) and D7S2476 (62.9 percent). The microdeletion was present in 84 (86.6 percent) patients and absent in 13 (13.4 percent) patients. Maternal deletions were found in 52.4 percent of patients and paternal deletions in 47.6 percent of patients. The observed size of deletions was 1.55 Mb in 76/ 84 patients (90.5 percent) and 1.84 Mb in 8/84 patients (9.5 percent). SVAS as well as ocular and urinary abnormalities were more frequent in the patients with a deletion. There were no clinical differences in relation to either the size or parental origin of the deletion. CONCLUSION: Using these five selected microsatellite markers was informative in all patients, thus can be considered an alternative method for molecular diagnosis in Williams-Beuren syndrome.
Subject(s)
Adolescent , Child , Child, Preschool , Female , Humans , Infant , Male , /genetics , Gene Deletion , Microsatellite Repeats , Williams Syndrome/genetics , Genetic Association Studies , Genetic Markers , In Situ Hybridization, Fluorescence , Polymerase Chain Reaction , Polymorphism, Genetic , Reproducibility of Results , Williams Syndrome/diagnosisABSTRACT
Thirty-seven 45 X Turner syndrome patients with confirmed peripheral blood lymphocyte karyotype were initially selected to determine the origin of the retained X chromosome and to correlate it with their parents stature. Blood samples were available in 25 families. The parental origin of the X chromosome was determined in 24 informativefamilies through the analysis of the exon 1 - CAG repeat variation of the androgen receptor gene. In 70.8% of the cases, the retained X chromosome was maternal in origin and 29.2% was paternal. When we classified the patients according to maternal (Xm) or paternal (Xp) X chromosome, there was a positive correlation between patients and maternal heights only in the Xm group. There was no correlation with paternal height in either group, and a significant correlation with target height was only observed in the Xm group. In conclusion, maternal height is the best variable correlating with the height of 45 X Turner syndrome patients who retain the maternal X chromosome, suggesting a strong influence of genes located on the maternal X chromosome on stature.