Differential diagnosis of Fanconi anemia by nitrogen mustard and diepoxybutane

Fanconi anemia (FA) is an autosomal recessive inherited disorder which is associated with a variety of congenital anomalies. These include morphometric abnormalities involving mainly the head and face, skeletal malformations particularly of the radial ray, growth retardation, abnormal skin pigmentation, deafness, and renal, ocular, genital, and cardiac defects. The cardinal clinical feature is a severe progressive pancytopenia. The overall aim of our study was to compare two different alkylating agents that would permit rapid and unequivocal detection of FA. A total of 271 patients underwent nitrogen mustard (NTM) and diepoxybutane (DEB) tests in our laboratory; baseline chromosomal breakage was studied for all of them. After the results of the chromosomal breakage studies, 72 patients were diagnosed as affected and 136 patients as unaffected by FA. We also studied 63 family members of FA patients. According to our study, NTM seems more specific to identify chromosomal breakages in FA parents than DEB

Joubert syndrome co-existing with partial Xp trisomy: Review of the literature

Joubert syndrome co-existing with partial Xp trisomy. review of the literature: We report a five-year-old girl who has been clinically diagnosed as Joubert syndrome. Her cytogenetic analysis showed 46,XX,der(2)add(2q37) karyotype. Cytogenetic analysis of her mother and maternal grandmother revealed a karyogram designated as 46,X,t (X;2)(p11.2;q37). The proband's derivative chromosome was further confirmed to be a translocation chromosome 2 carrying segments from chromosome X, which originated from a segregation event of the maternal grandmother's balanced translocation passed on as a balanced translocation to the proband's mother either. So far, a number of candidate genes including EN1 on 2q were analyzed for Joubert syndrome. Based on our proband's abnormal karyotype, we suggest that further mapping studies for the syndrome should also be directed towards the chromosome X segments present on the derivative chromosome 2 of our proband

Two cases of partial trisomy 10q syndrome due to a familial 10;20 translocation

We describe an eleven day-old boy and his first degree double cousin who both have distal trisomy 10q syndrome. Their cytogenetic analysis using GTG-banding showed an unbalanced translocation 46, XY, -20, +der(20), t(10;20)(q22.3, p11) mat and 46, XX, -20, +der(20), t(10;20)(q22.3, p11) mat. The translocation was confirmed by FISH. We have found balanced translocation t(10;20)(q22.3; p11) with cytogenetic and FISH studies in the mothers and maternal grandfather of these children. Our cases had typical craniofacial and visceral anomalies of this syndrome. However case 1 had an agenesia of corpus callosum which was not previously described and case 2 had hypertrophied cardiomyopathy and cliteromegaly which were previously described as rare anomalies for this syndrome

Anophthalmia-Waardenburg syndrome: A report of three cases

We report on 2 Turkish families with children who had bilateral anophthalmia, upper and lower limb abnormalities, mental retardation and consanguineous parents, We have evaluated the 2 cases in the first family and the only case in the second as anophthalmia-Waardenburg syndrome, This is an extremely rare autosomal recessive syndrome. (C) 1996 Wiley-Liss, Inc

Effect of hypertension therapy with the angiotensin-converting enzyme inhibitor lisinopril on hyperandrogenism in women with polycystic ovary syndrome

Objective: To investigate the effect of an angiotensin-converting enzyme inhibitor, lisinopril, on serum androgen and sex-hormone-binding globulin (SHBG) levels in hypertensive women with polycystic ovary syndrome (PCOS)

DE-NOVO X/X TRANSLOCATION IN A PATIENT WITH SECONDARY AMENORRHEA

A 46,X,t(X;X) (qter --> p22::p22 --> qter) karyotype was found in the chromosome analysis of a 22 years old female patient with secondary amenorrhea. Further analysis with fluorescence in situ hybridization indicated that the marker chromosome had one active and one inactive centromere originating from the X chromosome. RBG-banding showed that the derivative X chromosome was preferentially inactivated in cultured lymphocytes