Three Offspring with Cri-du-Chat Syndrome from Phenotypically Normal Parents.

Cri-du-chat syndrome is characterized by facial dysmorphism, intellectual disability, and multiple congenital anomalies. Most cases occur de novo. Here, we report 3 siblings with cri-du-chat syndrome born to healthy parents. The proband was admitted to our clinic at the age of 6.5 years due to severe intellectual disability, facial dysmorphism, and heart defect. His karyotype showed a deletion of chromosome 5p. Microarray analysis revealed a 29-Mb deletion in chromosome 5p and a 4.7-Mb duplication in chromosome 19q. FISH analysis indicated an unbalanced translocation between 5p13.3 and 19q13.4. During follow-up, the second and the third child of the family were born with the same chromosome abnormality. Parental peripheral blood and skin fibroblast karyotypes as well as the FISH results using chromosome 5p- and 19q-specific subtelomeric probes were normal. FISH analysis of the father's sperm detected a 5p deletion in 12.8% of 200 cells, and microarray analysis confirmed the same unbalanced chromosome abnormality in a mosaic pattern. Uncultured peripheral blood and buccal smear of the father were also studied by FISH to exclude low-level mosaicism and in vitro culture effect. This is the first study that provides molecular evidence of paternal gonadal mosaicism of an unbalanced translocation detected in 3 siblings with cri-du-chat syndrome.

Effect of DNA damage of cumulus oophorus cells and lymphocytes analyzed by alkaline comet assay on oocyte quality and intracytoplasmic sperm injection success among patients with polycystic ovary syndrome.

AIM: Cumulus oophorus cells (COC) exhibit a close relationship with the oocytes. We aimed to determine the role of the DNA integrity of COC and lymphocytes on the oocyte and embryo quality and intracytoplasmic sperm injection (ICSI) success. METHODS: The COC obtained with the mechanical denudation of each oocyte and the lymphocytes obtained on oocyte retrieval day from 69 infertile polycystic ovary syndrome (PCOS) patients were used. The tail length, tail moment and tail DNA percentage were evaluated using an alkaline comet assay. The oocytes and embryos were graded. Clinical pregnancy was defined as the presence of a gestational sac with a beating heart. RESULTS: All of the DNA integrity parameters of the COC and lymphocytes were similar between the good and poor quality oocytes and between the good and poor quality embryos. There was no relationship between the DNA damage parameters and the fertilization and clinical pregnancy. The day 2 hormone levels, body mass index and age were negatively correlated with the DNA integrity parameters. No links were found between the embryo and oocyte scores and the DNA damage parameters. CONCLUSION: The DNA integrity of the COC and lymphocytes did not seem to be related to the oocyte and embryo quality and ICSI success.

Severe leukemoid reaction in a preterm infant with congenital cytomegalovirus infection.

Leukemoid reaction, defined as a total leukocyte count of >50,000/mm, is most commonly related to antenatal administration of steroids, infections, and transient myeloproliferative disorder of Down syndrome in newborns. Atypical presentations of viral infections can be a diagnostic challenge in the newborn period. Cytomegalovirus (CMV) infection causes a multisystem disease, and symptomatic infants generally present with intrauterine growth restriction, hepatosplenomegaly, cholestasis, rash, thrombocytopenia, and microcephaly. We present a case of a preterm infant with severe myeloid leukemoid reaction (leukocyte count >100,000/mm) at birth who was diagnosed with congenital CMV infection on the basis of CMV polymerase chain reaction results after the appearance of cholestasis, blueberry muffin rash, and hepatosplenomegaly.

The role of omentectomy and appendectomy during the surgical staging of clinical stage I endometrial cancer.

Assessment of extrauterine spread is the most important objective of surgical staging in the endometrioid adenocarcinoma of uterine corpus. The role of omentectomy and appendectomy in the staging procedure is unclear. In this study, our objective was to determine whether omentectomy and appendectomy should be a part of the surgical staging in endometrioid adenocarcinoma of uterine corpus. Fifty-one patients who were diagnosed as clinical stage I endometrioid adenocarcinoma of corpus uteri were reviewed. Demographic, clinicopathologic, and surveillance data were collected from hospital charts. Grade, myometrial invasion, cervical and adnexal involvement and positive peritoneal cytology, lymph node and omentum and appendix involvement were recorded. The median age of 51 women was 60.45 years. Median follow-up period was 46.19 months. Microscopic omental involvement was detected in three cases (6%). Two cases (3.9%) of metastasis to appendix were seen. Omentum metastasis was more common in the patient with adnexal involvement, lymph node metastasis, and deep myometrial invasion (P= 0. 014, P= 0. 046, and P= 0. 033, respectively). Median survival was 53 months. We conclude that omentectomy gives additional information about extrauterine spread of tumor without increased operational morbidity and should be performed as a component of surgical staging in the presence of normal appeared omentum.