Warkany syndrome 2 or Trisomy 8 mosaicism (T8M) is a well-described, but very rare, chromosomal abnormality. The phenotype is extremely variable ranging from normal individual to severe malformation syndrome and because of this variability, this condition often goes undiagnosed. We report trisomy 8 mosaicism (T8M) in a 3-year-old boy evaluated for facial dysmorphism and delayed development.

Three patients with chronic red cell aplasia also showed thrombocytosis or granulocytosis, or both. All had morphological evidence of myelodysplasia on examination of bone marrow aspirate but none had a detectable chromosomal abnormality. These patients seem to provide evidence of a separate entity within the spectrum of myelodysplastic and myeloproliferative disease.

Trisomy 14 mosaicism is a rare chromosomal abnormality with distinct and recognizable clinical features. We report a patient with presumed retinal dystrophy having diffuse retinal pigment epithelial abnormalities, which has not been previously reported in association with trisomy 14. This case expands the clinical spectrum of this rare entity.

We have identified five children with hepatoblastoma who have a family history of polyposis coli affecting the mother and maternal relatives. We believe that the familial association of these two conditions is unlikely to have occurred by chance. Cytogenetic studies on three of the families have shown no evidence of a chromosomal abnormality.

Klinefelter syndrome (KS) is a chromosomal abnormality characterised by a 47, XXY karyotype associated with hypogonadism and infertility. We present a case of a 20-year-old patient who applied to our clinic because of growth deficiency and was concurrently diagnosed with Klinefelter syndrome and celiac disease.

Myelodysplastic syndrome is a closely related group of acquired bone marrow disorders characterized by ineffective and dysplastic hematopoiesis. These clonal disorders frequently progress to acute leukemia. Acute myelomonocytic leukemia with eosinophilia is characterized by an increase in abnormal eosinophils in the bone marrow, relatively good clinical course and inv (16) chromosomal abnormali...

A female infant with additional genetic material on the long arm of chromosome 18 is described. Cytogenetic studies of the infant and her mother showed that the altered region resulted from an unbalanced translocation of part of the long arm of chromosome 1. This chromosomal abnormality has not been reported previously, according to a recent registry of abnormal chromosome patterns. The patient...

In an effort to determine whether or not any characteristic chromosomal abnormalities exist in renal cancer, cytogenetic findings were correlated with tumor histology in nine cases of renal adenocarcinoma. Metaphase preparations adequate for analysis were obtained from cultures harvested between day 3 and day 21. Model chromosome number was diploid in three cases, hypodiploid in three, and hype...

OBJECTIVE To evaluate the patterns of chromosome abnormalities in embryos derived from intracytoplasmic sperm injection (ICSI) in microsurgical epididymal sperm aspiration (MESA) or testicular sperm extraction (TESE) in comparison to embryos that are derived from naturally ejaculated (EJAC) patients. MATERIALS AND METHODS Male partners with azoospermia who required MESA or TESE for ICSI were ...

BACKGROUND Fetal nasal bone assessment is a non-invasive procedure that helps provide even greater assurance to patients undergoing their first trimester risk assessment for aneuploidies. Absence or presence of this factor is different in some races. OBJECTIVE The study was aimed to evaluate nasal bone in the first trimester of pregnancy in the indigenous population of Khuzestan Province, and...