A Newborn with Congenital Mixed Phenotype Acute Leukemia After In Vitro Fertilization

Congenital leukemia is a rare disease. The majority of cases of this disease are acute myelogenous leukemia (AML). Congenital acute lymphoblastic leukemia (ALL) is rare and most often is of B cell lineage. Rarely, some cases have been designated biphenotypic or mixed phenotype acute leukemia (MPAL). Herein, we report a preterm newborn referred to us as a result of the appearance of blue-violaceous dermal nodules on her body at birth. She was a twin and the product of an in vitro fertilization (IVF) pregnancy. Physical examination showed jaundice, hepatosplenomegaly, and peripheral facial nerve palsy in addition to dermal nodules. Bone marrow aspiration showed 40% blasts of lymphoid lineage; skin biopsy and its immunohistochemistry revealed myeloblastic infiltration of the dermis. Cytogenetic analysis (46,XX), fluorescence in situ hybridization (FISH) analysis, and cranial magnetic resonance were normal. The patient was diagnosed with congenital MPAL, and an association between IVF and congenital leukemia was suggested

Laurence-Moon-Biedl syndrome with vaginal atresia

A 15-year-old girl presented with the rare Laurence-Moon-Biedl syndrome, accompanied by vaginal atresia, and cervical dysgenesis. She was treated by hysterectomy and construction of a neovagina with bilateral pudendal thigh flaps. Two brothers and a sister (one of twins) were unaffected but the remaining brother also had the disease

Familial Translocation (2;18) Ascertained Through Recurrent Spontaneous Abortions

We report a young woman who presented with a reproductive history of two recurrent spontaneous abortions. Genetic etiology of recurrent fetal loss is determined by the demonstration of parents' chromosomal constitution. Analysis of the family members from 2 generations revealed 3 phenotypically normal individuals carying the same reciprocal translocation. The great majority of apparently balanced translocations are associated with multiple miscarriages and normal phenotype. The proband's karyotype was identified as 46, XX, t (2;18) (p15; p11.2) by giemsa banding techniques. The karyotypes of the proband's father and brother are 46, XY, t (2;18) (p15;p11.2). Her sister had two spontaneus abortions, her chromosomal analysis could not be determined because she was living in another city. Cytogenetic studies of unbalanced miscarriages are difficult due to the growth failure of early loss and usually macerated abortions. Reciprocal translocations are of great clinical importance. The carriers of balanced reciprocal translocations have increased risk of creating gametes with unbalanced chromosome translocations leading to miscarriages or children with abnormalities. Genetic counseling and genetic testing is often offered o families carrying a translacation

Sister chromatid exchange frequency in lymphocytes cultured from cotton gin workers

Genetic biomonitoring of human populations exposed to potential mutagens/carcinogens can be performed using different genetic markers. Sister chromatid exchange (SCE) is one of the most extensively used markers of the early biological effects of DNA damaging agents. In order to assess the genotoxicity associated with exposure to cotton dust, we determined SCE frequency in peripheral blood lymphocytes cultured from 20 cotton gin workers and 20 controls. Student's-t test indicated an increased frequency of SCE in lymphocytes of the workers (14.66 ± 4.18) compared to the controls (10.40 ± 1.37) (P 10 years) and the work area were not related to the frequency of SCE (P > 0.05). The textile industry is rapidly expanding in Turkey, and the results of this study suggest that exposure to cotton dust may constitute a genotoxic hazard

Public Health Reports ; v. 27, no. 42, p. 1729

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Non-Mosaic Tetrasomy 9p in An Infant With Multiple Congenital Anomalies

Supernumerary isochromosomes resulting in autosomal tetrasomy are rare and have been described for 12p, 18p and 9p. To date, approximately 30 patients have been described with a tetrasomy 9p, majority of cases being mosaics. We present a new case of non-mosaic i(9p) that presented to us early in infancy with significant dysmorphological features including severe retardation, hypertelorism, cleft lip and palate, micrognathia and low set malformed ears. Skeletal abnormalities were loss of some of the phalanxes, hypoplastic nails with mild syndactyly, limb contractures and dislocated hibs. The main difference between mosaic and non-mosaic infants is the poorer prognosis of non-mosaics. The infant died at 28th day of age, three days later of hospitalization. Karyotype analysis of blood lymphocytes indicated an additional marker as an isochromosome in the size of E-16. The origin and structure of this additional marker could not be determined by chromosome banding. Application of fluorescence in situ hybridization identified the origin of marker chromosome as isochromosome 9p, demonstrating the effectiveness of molecular cytogenetic investigation in the diagnosis of structural and numerical chromosomal abnormalities