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Non-syndromic hearing impairment (NSHI) is the most common form of deafness and presents with no other symptoms or sensory defects. Mutations in the gap junction gene GJB2 account for a high proportion of recessive NSHI. The GJB2 gene encodes connexin 26, which forms plasma membrane channels between cochlear cells. In Caucasian populations a single(More)
BACKGROUND The microdeletion of chromosome 22q11.2 is the most common human deletion syndrome. It typically presents early in life and is rarely considered in adult patients. As part of the manifestations of this condition, patients can have parathyroid glandular involvement ranging from hypocalcemic hypoparathyroidism to normocalcemia with normal(More)
OBJECTIVES HER2 (human epidermal growth factor receptor 2) is an important biomarker in breast cancer, but its prevalence in elderly women is not well established. Previous studies reported HER2 status based on either immunohistochemistry (IHC) or fluorescent in situ hybridization (FISH) interchangeably. However, the tests may give discordant results. We(More)
To ascertain the distribution of whole-arm translocations (WATs) and their consequential imbalances in hematologic malignancies, we analyzed the imbalances related to chromosomes involved in clonal, acquired WATs in 140 consecutive tumors with WATs and near-diploid karyotypes. Tumors for analysis were obtained from a survey of the cytogenetic database in(More)
The presence of a near-haploid karyotype is a rare finding in human malignancies, most frequently occurring in acute leukemia. In solid tumors, a near-haploid karyotype has been reported in fewer than 40 cases. We report two nearly identical near-haploid karyotypes from two distinctly different tumor types. The first case is a biphasic malignant(More)
PURPOSE Limited data regarding the cystic fibrosis carrier frequency and mutation detection rate is available for Arab-Americans. We retrospectively determined the frequency of carriers among Arab-Americans undergoing preconception and prenatal carrier screening in our laboratories. METHODS Between October, 2001 and June, 2005, we performed carrier(More)
We report three symptomatic children with profound biotinidase deficiency from Sri Lanka. All three children presented with typical clinical features of the disorder. The first is homozygous for a missense mutation in the BTD gene (c.98_104 del7insTCC; p.Cys33PhefsX36) that is commonly seen in the western countries, the second is homozygous for a novel(More)
We present a male patient with constitutional ring 1 chromosome and subsequent 6 Mb deletion at 1q43q44. The patient displays overlapping clinical features with reported patients with ring 1 chromosome and 1q43q44 microdeletion syndrome. To our knowledge, this is the first patient with ring 1 chromosome characterized by comparative genomic hybridization.
Partial duplication of chromosome 3q is a recognizable syndrome with characteristic facial features, microcephaly, digital anomalies, genitourinary and cardiac defects as well as growth retardation and developmental delays. While there is clinical overlap with the unrelated Cornelia de Lange syndrome (CDLS), there are distinguishing features and molecular(More)