نتایج جستجو برای: chromosome anomaly
تعداد نتایج: 157750 فیلتر نتایج به سال:
Cytogenetic abnormalities including the gain and loss of chromosomes play an important role in oncogenesis. Aberrations involving chromosome 1 are one of the most common anomalies reported among human neoplasms and have been observed in both solid tumors and hematological malignancies. This review highlights the prognostic import of cytogenetic abnormalities involving 1q in childhood cancers an...
Smith-Magenis syndrome (SMS) is a complex congenital anomaly characterized by craniofacial anomalies, neurological and behavioral disorders. SMS is caused by a deletion in region 17p11.2, which includes the RAI1 gene (90% of cases), or by point mutation in the RAI1 gene (10% of cases). Laboratory diagnosis is through cytogenetic analysis by GTG banding and molecular cytogenetic analysis b...
The aim of this study was to describe the clinical and laboratory findings associated with a previously unreported unbalanced X;6 translocation. Physical examination, reproductive history and cytogenetic techniques were used to characterise a novel chromosomal anomaly associated with gonadal dysgenesis. A healthy non-dysmorphic 23 year-old phenotypic female with primary amenorrhea and infertili...
pericentric inversions of chromosome 9 are among the most frequent chromosomal rearrangement in human. a few cytogeneticists consider inversions of chromosome 9 as a normal variant. however, many reports in the recent literature link pericentric inversions of chromosome 9 with infertility, recurrent abortions, and a number of other abnormal conditions. we report a case of homozygosity pericentr...
AIM To test the hypothesis that microdeletions or microduplications below the resolution of a standard karyotype may be a significant cause of highly skewed X-inactivation (HSXI) in women without a cytogenetically detected X-chromosome anomaly. METHODS Cases were women with HSXI, defined as ≥85% of cells in a blood sample with the same active allele at the HUMARA locus. The skewing in control...
Wolf-Hirschhorn syndrome (WHS) is one of multiple congenital anomaly/mental retardation (MCA/MR) syndromes and is caused by partial deletion of the short arm of chromosome 4, particularly in the Wolf-Hirschhorn syndrome critical region-1 (WHSCR1) and Wolf-Hirschhorn syndrome critical region-2 (WHSCR2), which are located in chromosome 4p16.3. Loss of these regions is indeed the cause of WHS, and...
P artial trisomy 16p is a rare chromosomal anomaly in newborns: of the fewer than 30 carrier patients so far reported, most were born to parents with a balanced translocation involving the p arm of chromosome 16. Pure partial trisomy 16p has been reported in seven patients, three of whom (all showing behavioural problems with autistic traits) carried a tandem duplication of the (16)(p11.2–p12) ...
It was with great interest that we read the recently published artic1e by de Rubens Figueroa et al1 in REVISTA ESPAÑOLA DE CARDIOLOGÍA. The article contained a report that the most frequently observed isolated cardiac defects in Mexican children with Down syndrome are atrial septal defects and ventricular septal defects. This observation, which has been described previously,2 contrasts with rep...
Obesity is a symptom of diagnostic value in multiple congenital anomaly-mental retardation syndromes. While acquired non-specific weight gain related to drug intake or associated behavioural disorders occasionally occurs in the course of mental retardation, obesity is known to be a specific feature of several well defined conditions, including Bardet-Biedl syndrome, Prader-Willi syndrome, Cohen...
OBJECTIVE To investigate the rates of termination of pregnancy (TOP) for fetal chromosomal abnormalities and factors related to such parental decision in Japan. METHODS A multicenter retrospective cohort study of chromosomal abnormalities diagnosed before 22 weeks of gestation between April 2008 and March 2015. The pregnancy outcomes and parental decisions were investigated. RESULTS Among 9...
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