Ariadni Kalpini-Mavrou

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Since its discovery in 1997, knowledge about the SHOX gene ( Short stature HOmeoboX-containing gene) has rapidly advanced. Although originally described as causing idiopathic short stature, SHOX mutations are also responsible for growth retardation in Léri-Weill dyschondrosteosis, Langer mesomelic dysplasia and Turner syndrome. Furthermore, SHOX has a broad(More)
The end-organ resistance to androgens has been designated as androgen insensitivity syndrome (AIS), an X-linked disorder caused by mutations in the androgen receptor (AR) gene. It is generally accepted that defects in the AR gene prevent the normal development of both internal and external genital structures in 46,XY individuals, causing a variety of(More)
The morphologic variations of C-band heterochromatin of chromosome 9 were studied in 600 Greek subjects referred for cytogenetic investigation. There was great variability in the location and length of the heterochromatic bands. The location and length of the heterochromatic band were equal in 177 individuals and unequal in 423. Twenty-five subjects (4%)(More)
The authors report on the incidence of translocations detected among 300 Greek couples referred for cytogenetic investigation because of repeated abortion, stillbirth, and/or the birth of children with multiple congenital anomalies. Translocations were detected in 16 cases, ie, 1 of 19 couples. However, the incidence of the translocations was unevenly(More)
Medulloblastomas account for 20% of all primary brain tumors. The vast majority of them are sporadic. Familial medulloblastoma is very rare--only a few cases have been reported worldwide. Most were observed in siblings of the same sex. The affected children presented at various ages and all of them have died, usually within the first 2 years following(More)
OBJECTIVE To establish the diagnosis of complete androgen insensitivity syndrome (CAIS) in two patients with characteristic clinical and hormonal findings, relative family history in one of them, and unusual Müllerian remnants in the other. DESIGN Case report. SETTING Research laboratory in the Department of Medical Genetics at a university children's(More)
A 14-year-old girl with recent onset of diabetes developed a severe systemic allergic reaction to beef-pork insulin on the third day of insulin therapy. The same reaction developed following the injection of pork insulin and monocomponent insulin. The patient was induced to tolerate pork insulin by systemic desensitization to this insulin over an interval(More)