Temple syndrome resulting from uniparental disomy is undiagnosed by a methylation assay due to low-level mosaicism for trisomy 14.

We describe a patient with Temple syndrome resulting from maternal uniparental disomy of chromosome 14 who also has low-level mosaicism for trisomy 14. UPD was initially suspected when SNP microarray analysis detected a large region of homozygosity on chromosome 14 and the patient's clinical features were consistent with the phenotype of upd(14)mat. However, SNP arrays cannot prove UPD, as homozygosity may also result from identity by descent.

A Case of Osteogenesis Imperfecta Type II With Additional Balanced Translocation t(1;20)(p13;p11.2).

Background: Osteogenesis imperfect (OI) type II is a genetic disorder of bone characterized by bone fragility, multiple fractures, severe bowing and shortening of long bones, and perinatal death due to respiratory insufficiency. It is mainly caused by mutations in the COL1A1 or COL1A2 genes, inherited in an autosomal dominant manner.

Case Report: A fetal form of this disorder that included brachydactyly, macrocephaly, frontal bossing, soft calvarium, saddle nose, micrognathia, low set ears, and narrow thoracic cavity is described.

Thrombocytopenia and Predisposition to Acute Myeloid Leukemia due to Mosaic Ring 21 with Loss of : Cytogenetic and Molecular Characterization.

Familial platelet disorder with predisposition to acute myeloid leukemia (FPD/AML) has been well documented in the literature and is a new entity within the latest revised edition of the WHO Classification of Tumors of Hematopoietic and Lymphoid Tissues (OMIM). The disorder arises due to mutations within the gene in chromosome 21; mutations within the Runt-binding domain are the most commonly encountered anomalies that cause decreased platelet count and function. Rare cases of haploinsufficiency have also been shown to cause this disorder.

Anterior Pituitary Aplasia in an Infant with Ring Chromosome 18p Deletion.

We present the first reported case of an infant with 18p deletion syndrome with anterior pituitary aplasia secondary to a ring chromosome. Endocrine workup soon after birth was reassuring; however, repeat testing months later confirmed central hypopituitarism. While MRI reading initially indicated no midline defects, subsequent review of the images confirmed anterior pituitary aplasia with ectopic posterior pituitary.

Behavioral abnormalities are common and severe in patients with distal 22q11.2 microdeletions and microduplications.

We describe six individuals with microdeletions and microduplications in the distal 22q11.2 region detected by microarray. Five of the abnormalities have breakpoints in the low-copy repeats (LCR) in this region and one patient has an atypical rearrangement.

Unique immunologic patterns in fibromyalgia.

Background: Fibromyalgia (FM) is a clinical syndrome characterized by chronic pain and allodynia. The diagnosis of FM has been one of exclusion as a test to confirm the diagnosis is lacking. Recent data highlight the role of the immune system in FM.

Acute myelogenous leukemia with t(6;9)(p23;q34) and marrow basophilia: an overview.

Acute myelogenous leukemia (AML) with chromosomal translocation (6;9)(p23;q34) is a rare disease with poor prognosis and distinct clinical and morphologic features. t(6;9) results in a chimeric fusion gene between DEK (6p23) and CAN/NUP214 (9q34). FLT3-ITD mutation is one of the most frequent mutations in AML and correlates with poor clinical outcome.

Effects of chromatin-modifying agents on CD34+ cells from patients with idiopathic myelofibrosis.

Idiopathic myelofibrosis (IM) is likely the consequence of both the acquisition of genetic mutations and epigenetic changes that silence critical genes that control cell proliferation, differentiation, and apoptosis. We have explored the effects of the sequential treatment with the DNA methyltransferase inhibitor, decitabine [5-aza-2'-deoxycytidine (5azaD)], followed by the histone deacetylase inhibitor, trichostatin A (TSA), on the behavior of IM CD34(+) cells. Unlike normal CD34(+) cells where 5azaD/TSA treatment leads to the expansion of CD34(+) cells and marrow-repopulating cells, treatment of IM CD34(+) cells results in a reduction of the number of total cells, CD34(+) cells, and assayable hematopoietic progenitor cells (HPC).

Extranodal natural killer/t-cell lymphoma, nasal type, in a patient with a constitutional 11q terminal deletion disorder.

Background: Most cases of constitutional 11q terminal deletion disorder are children. Malignancy is a potential concern, as these children reach adulthood. However, since the majority of patients are young, their risk of developing malignancy in adulthood is essentially unknown.

High incidence of chromosome 1 abnormalities in a series of 27 renal oncocytomas: cytogenetic and fluorescence in situ hybridization studies.

Context: It has recently been shown by cytogenetics that there is a high incidence of chromosome 1 abnormalities in renal oncocytomas.

Objective: To confirm the cytogenetic results by fluorescence in situ hybridization (FISH) analysis.

Design: Nine additional cytogenetic analyses were added to those reported in our recent study, with a total of 27 tumors studied, which makes it the largest series of renal oncocytomas studied to date by cytogenetics and/or FISH.

MLL-SEPT6 fusion transcript with a novel sequence in an infant with acute myeloid leukemia.

The MLL gene at 11q23 is a site of frequent rearrangement in acute leukemia with multiple fusion partners. A relatively uncommon rearrangement, associated with infant AML-M4, fuses the MLL and SEPT6 genes. SEPT6, located at Xq24, is a member of a family of mammalian septins involved in diverse functions such as cytokinesis, cell polarity, and oncogenesis.

Passive seeding in metanephric adenoma: a review of pseudometastatic lesions in perinephric lymph nodes.

Lymph node involvement derived from a discrete neoplastic process fundamentally implies tumor malignancy. However, rarely, inconsequential passive transport of benign neoplastic cells to the lymph node can occur and may cause confusion as to the nature of the neoplasm (ie, malignant vs benign). We describe a 10-cm right renal metanephric adenoma incidentally discovered in a 30-year-old woman during cesarean section for a triplet pregnancy.

Renal tumor with overlapping distal nephron morphology and karyotype.

Although most renal epithelial tumors are derived from the proximal nephron, approximately 10% are believed to originate in the distal nephron. This latter group encompasses oncocytoma, chromophobe renal cell carcinoma, and several rare types, including collecting duct carcinoma and renal medullary carcinoma. Despite progress in the classification of renal tumors, a small subset of renal carcinomas remains unclassified (ie, renal cell carcinoma, not otherwise specified).

The constitutive mobilization of bone marrow-repopulating cells into the peripheral blood in idiopathic myelofibrosis.

Idiopathic myelofibrosis (IM) is characterized by the constitutive mobilization of CD34(+) cells. IM peripheral blood (PB) CD34(+) cells had a reduced cloning efficiency and a lower frequency of cobblestone areas compared with normal granulocyte colony-stimulating factor (G-CSF)-mobilized PB CD34(+) cells. IM CD34(+) cells engrafted nonobese diabetic/severe combined immunodeficient (NOD/SCID) mice, demonstrating that they contain bone marrow (BM)-repopulating cells.

Comprehensive analysis of CBFbeta-MYH11 fusion transcripts in acute myeloid leukemia by RT-PCR analysis.

CBFbeta-MYH11 fusion transcripts are expressed in acute myeloid leukemias of the M4Eo subtype. Patients who express CBFbeta-MYH11 fusion transcripts respond favorably to high-dose chemotherapy and are generally spared allogeneic bone marrow transplantation. Hence it is important to identify this fusion in all patients with acute myeloid leukemia M4Eo leukemia.

Cytogenetic analysis of a series of 13 renal oncocytomas.

Purpose: Only about 50 renal oncocytomas have been studied cytogenetically. They fall into 3 categories, namely 1-normal karyotype, 2-monosomy 1, often with Y chromosome loss, and 3-structural abnormalities of 11q13. Additional abnormalities may occur with transformation to chromophobe renal cell carcinoma, although exactly which one is unclear.