Subtelomeric MLPA: is it really useful in prenatal diagnosis?

To evaluate the usefulness of subtelomeric multiplex ligation‐dependent probe amplification (MLPA) in both the detection of subtelomeric rearrangements in fetuses with ultrasound abnormalities and normal karyotype, and the characterization of cytogenetically detectable rearrangements.

[1]  I. Madrigal,et al.  Prenatal diagnosis of two different unbalanced forms of an inherited (Y;12) translocation , 2009, American journal of medical genetics. Part A.

[2]  L. Shaffer,et al.  Use of array comparative genomic hybridization for prenatal diagnosis of fetuses with sonographic anomalies and normal metaphase karyotype , 2009, Prenatal diagnosis.

[3]  J. Roume,et al.  Array Comparative Genomic Hybridization in Prenatal Diagnosis: Another Experience , 2009, Fetal Diagnosis and Therapy.

[4]  N. de Leeuw,et al.  Detection of cryptic subtelomeric imbalances in fetuses with ultrasound abnormalities. , 2008, European journal of medical genetics.

[5]  Evdokia Anagnostou,et al.  Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: Efficient identification of known microduplications and identification of a novel microduplication in ASMT , 2008, BMC Medical Genomics.

[6]  L. Shaffer,et al.  Comparison of microarray‐based detection rates for cytogenetic abnormalities in prenatal and neonatal specimens , 2008, Prenatal diagnosis.

[7]  P. Stankiewicz,et al.  Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: A study of 5,380 cases , 2008, American journal of medical genetics. Part A.

[8]  A. Stegmann,et al.  Prospective screening of patients with unexplained mental retardation using subtelomeric MLPA strongly increases the detection rate of cryptic unbalanced chromosomal rearrangements. , 2008, European journal of medical genetics.

[9]  A. Verloes,et al.  Molecular cytogenetic characterization of terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasia , 2008, European Journal of Human Genetics.

[10]  Kim-Anh Do,et al.  Biomarker expression patterns that correlate with high grade features in treatment naive, organ-confined prostate cancer , 2008, BMC Medical Genomics.

[11]  L. Simpson,et al.  Screening for congenital heart disease: a move toward earlier echocardiography. , 2007, American journal of perinatology.

[12]  E. Lemyre,et al.  Prenatal detection of subtelomeric rearrangements by multi‐subtelomere FISH in a cohort of fetuses with major malformations , 2006, American journal of medical genetics. Part A.

[13]  J. Graham,et al.  Klinefelter syndrome and other sex chromosomal aneuploidies , 2006, Orphanet journal of rare diseases.

[14]  C. Perreault,et al.  Identification and characterization of an Xp22.33;Yp11.2 translocation causing a triplication of several genes of the pseudoautosomal region 1 in an XX male patient with severe systemic lupus erythematosus. , 2006, Arthritis and rheumatism.

[15]  Dian Donnai,et al.  Orphanet Journal of Rare Diseases: Launch Editorial , 2006, Orphanet Journal of Rare Diseases.

[16]  D. Ledbetter,et al.  Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities , 2005, Journal of Medical Genetics.

[17]  T. Frebourg,et al.  Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations , 2005, Journal of Medical Genetics.

[18]  R. Hennekam,et al.  Further delineation of the chromosome 14q terminal deletion syndrome. , 2002, American journal of medical genetics.