A Y;12 translocation, resulting in extra Yq material and partial monosomy 12p, was found in a 7 1/2 year old boy. He showed growth and mental retardation and several of the congenital anomalies seen in the 12p deletion syndrome. LDHB activity, the gene for which is located at 12p12, was normal in serum, in accordance with the suspected 12p13 deletion in the patient.

At present the pathogenesis and therapeutic effect of chronic myelomonocytic leukemia (CMML) is still not very clear. There are no specific molecular biology characteristics in it. We report a novel deletion in the Yq chromosome of a patient with CMML, as well as the treatment and prognosis, and review the relevant literature, and put forward that the Y chromosome abnormality may be involved in...

This set of guidelines is designed to assist the pediatrician to care for children with Williams syndrome diagnosed by clinical features and with regional chromosomal microdeletion confirmed by fluorescence in situ hybridization.

Three unrelated patients with similar microdeletions of chromosome 14q32.11 shared phenotypes including language and developmental delay, four overlapping genes -CALM1, TTC7B, PSMC1, RPS6KA5 have been presented. All are expressed in the brain haploinsufficiency scores, which reflect low tolerance to loss function variation. An insight on region, may influence resulting phenotype has provided. G...

BACKGROUND The mitotic and meiotic behaviour of a transmitted ring Y [r(Y)] chromosome from a father to his Klinefelter syndrome (KS) son, and the mechanism of ring formation are analysed herein. To our knowledge, this is the first reported case of natural transmission of an r(Y). METHODS AND RESULTS Amplification of X chromosome polymorphisms by PCR showed that the KS was of paternal origin....

In common with other mammalian sex chromosomes, the mouse sex chromosomes are enriched for genes with male-specific function such as testis genes. However, in mouse there has been an unprecedented expansion of ampliconic sequence containing spermatid-expressed genes. We show via a phylogenetic analysis of gene amplification on the mouse sex chromosomes that multiple families of sex-linked sperm...

The proximal q arm of chromosome 15 contains breakpoint regions BP1-BP5 with the classic deletion of BP1-BP3 best known to be associated with Prader-Willi and Angelman syndromes. The region is approximately 500 kb and microdeletions within the BP1-BP2 region have been reported in patients with developmental delay, behavioral abnormalities, and motor apraxia as well as dysmorphic features includ...

OBJECTIVE To assess the accuracy of prenatal diagnosis, the incidence of extracardiac and chromosomal anomalies, and the perinatal outcome in a population of fetuses with common arterial trunk (CAT). DESIGN Observational study of 23 fetuses from three referral centres with a confirmed diagnosis of CAT. All underwent fetal echocardiography, detailed anatomical scanning, and karyotyping. In 19 ...