Ovarian agenesis and MURCS association

The MURCS (MUllerian duct aplasia, Renal aplasia, Cervicothoracic Somite dysplasia) association is a rare and sporadic disease. The etiology is unknown. We present a patient with short stature, absence of uterus, tubes, left ovary, left renal agenesis, servical block vertebra

Analysis of cell-free fetal DNA from maternal plasma and serum using a conventional multiplex PCR: Factors influencing success

Recent technology enables the use of cell-free fetal DNA in maternal plasma and serum for noninvasive prenatal genetic diagnosis. This study was designed to evaluate factors most likely to influence the success of a simple, cost efficient, reliable and replicable conventional PCR technique in the clinical routine of prenatal genetic diagnosis of selected cases. The results strongly suggest that DNA extraction and PCR cycle optimization are 2 major success-limiting steps and the maternal plasma is a better choice over serum for DNA extraction for such prenatal genetic diagnosis. In addition, the use of a ready-to-use PCR mixture containing heat-activated Taq polymerase significantly reduced the risk of nonspecific amplification and of primer dimerization formed at low temperatures during PCR setup and tha initial PCR cycle eliminating false positive results and insufficient PCR amplification, respectively. Thus the ease, rapidity and effectiveness shown by the presented system requiring only optimization of routine PCR procedure and no additional sophisticated equipment could theoretically reduce the cost and number of invasive procedures required for prenatal diagnosis of X-linked recessive genetic disorders and of fetal RhD status

Homozygous feature of isolated triphalangeal thumb-preaxial polydactyly linked to 7q36: No phenotypic difference between homozygotes and heterozygotes

Preaxial polydactyly is a common limb malformation in humans with variable clinical expression. Different types of triphalangeal thumb-preaxial polydactyly phenotypes were mapped to the chromosome 7q36 region. We studied a large Turkish family of 69 individuals, of whom 22 individuals were affected. In all, 11 affected family members were clinically and radiologically evaluated. All affected individuals had a triphalangeal thumb and a preaxial (hypoplastic) extra digit bilaterally, with minimal intrafamilial variation. No feet involvement was observed. Linkage and haplotype analyses using 20 informative meioses confirmed the 7q36 region contained the LIMBR1 gene. Maximum logarithm of the odds (LOD) scores were obtained with DNA markers D7S550 and D7S2423. We have further identified a novel C to T alteration at position 4909 bp in the critical zone of polarizing activity regulatory sequence (ZRS) region, in the intron 5, of the LMBR1 gene. One affected male with homozygous status and no phenotypic difference from affected family members with heterozygous status represented the first homozygote case of the triphalangeal thumb-preaxial polydactyly phenotype. © 2009 John Wiley & Sons A/S

The EEC syndrome and SHFM: report of two cases and mutation analysis of p63 gene.

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Detection of Y chromosomal material in patients with a 45,X karyotype by PCR method

A 45,X karyotype is one of the common chromosomal abnormalities characterized by short stature, lack of development of secondary sexual characteristics, webbed neck and cubitus valgus. This phenotype was described by Turner in 1938 and was called Turner syndrome (TS). About 40-60% of the patients with TS phenotype have a 45,X karyotype, the rest either have a structurally abnormal X or Y chromosome or mosaicism with a second cell line. Determination of Y chromosome derivatives in patients with a 45,X karyotype is important for the management of these patients due to increased risk of gonadoblastoma. Low level mosaicisim of Y chromosome may be missed by cytogenetic methods. The aim of our study is to analyze cryptic Y chromosome derivatives using Y specific sequences in 40 Turkish patients with a pure 45,X karyotype. Fourteen different Y specific sequences along the Y chromosome were selected for the detection of cryptic Y chromosome material by PCR analysis. The present study demonstrated that 2 patients with a 45,X karyotype (5%) have Y specific sequences except sex releated region Y (SRY). One of them had displayed enhanced virilisation whereas other showed no virilisation. In conclusion, it has been found by PCR analysis that 5% of patients with a 45,X karyotype have Y chromosome sequences in the absence of any marker chromosome by cytogenetic analysis. The data also suggest that the patients with a 45,X karyotype should be analyzed for the presence of Y chromosome derivatives by sensitive mehtods, such as PCR, in order to calculate the future risk of developing gonadoblastoma. © 2007 Tohoku University Medical Press

Lack of IL7R alpha expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD)

Schimke immuno-osseous dysplasia (SIOD) is an autosomal recessive, fatal childhood disorder associated with skeletal dysplasia, renal dysfunction, and T-cell immunodeficiency. This disease is linked to biallelic loss-of-function mutations of the SMARCAL1 gene. Although recurrent infection, due to T-cell deficiency, is a leading cause of morbidity and mortality, the etiology of the T-cell immunodeficiency is unclear. Here, we demonstrate that the T cells of SIOD patients have undetectable levels of protein and mRNA for the IL-7 receptor alpha chain (IL7R alpha) and are unresponsive to stimulation with IL-7, indicating a loss of functional receptor. No pathogenic mutations were detected in the exons of IL7R in these patients; however, CpG sites in the IL7R promoter were hypermethylated in SIOD T cells. We propose therefore that the lack of IL7R alpha expression, associated with hypermethylation of the IL7R promoter, in T cells and possibly their earlier progenitors, restricts T-cell development in SIOD patients. (C) 2015 Elsevier Inc. All rights reserved