A 36 year old white female was referred for chorionic villus sampling for advanced maternal age. Direct (cytotrophoblast) preparations of chorionic villi were 45,X, but cultured mesenchymal core cells from the same villi were 46,XX. Study of embryonic and extraembryonic tissues showed the aneuploidy to be limited to cytotrophoblasts from specific placental sites. In aggregate, the cytogenetic f...

PURPOSE In uveal melanoma, different predictors of poor prognosis have been identified, including monosomy of chromosome 3, HLA expression, and the presence of infiltrating leukocytes and macrophages. Each of these parameters can be used to differentiate prognostically the favorable tumors from the unfavorable ones, and thus the hypothesis for the present study was that they are related, and th...

Monosomy of chromosome 14 has been reported in only a few prenatal cases. Generally, this monosomy is associated with a mosaicism of ring chromosome 14. Ring chromosome 14 is a rare cytogenetic entity with clinical characteristics that include growth retardation, facial dysmorphia, hypotonia, seizures, and retinitis pigmentosa. Given that the majority of symptoms appear postnatally, few cases h...

Sir It has been estimated that 25-40% or more pregnancies end in spontaneous abortions and that at least 80% happened in the first trimester!. There are many causes of spontaneous abortion, but it is now known that about 60% of abortuses expelled spontaneously in the first trimester are chromosomally abnormaF. The types of chromosomal abnormality usually found in abortuses are autosomal trisomy...

INTRODUCTION Turner syndrome is characterized by the absence, total or partial, of one X chromosome in females, being one of the most frequent chromosomal abnormalities. Diagnosis is made by karyotype. Turner syndrome manifestations include primary hypogonadism, before or after puberty (gonadal dysgenesis). The degree and extent of gonadal disfunction are variable. OBJECTIVES We intended to a...

With increasing cfDNA aneuploidy screening, there is a corresponding increase in “false positive” and “non-reportable” results the setting of maternal malignancy. We hypothesize that these may be further characterized depending on stage type cancer. This was retrospective review cases with screening diagnosis malignancy during pregnancy. abstracted history, diagnoses, results, fetal outcomes fr...

X inactivation analysis was performed on normal and hypopigmented skin samples obtained from a female with hypomelanosis of Ito associated with a balanced whole arm X;17 translocation. Severe skewing of X inactivation resulting in inactivity of the intact X was found in blood and cultures of both types of skin, but analysis of DNA prepared directly from hypopigmented skin showed significant ina...

PURPOSE To investigate the presence of focal or diffuse heterogeneity of monosomy 3 in uveal melanoma, by using fluorescence in situ hybridization (FISH). METHODS Direct interphase FISH in a series of 151 uveal melanomas revealed 82 tumors with loss of chromosome 3. Tumors with monosomy 3 were suspected to be heterogeneous if there were low percentages of monosomy 3, triploid clones, inconsis...