Drosophila melanogaster chromosome 4 is an anomaly because of its small size, chromatin structure, and most notably its lack of crossing over during meiosis. Earlier ideas about the absence of crossovers on 4 hypothesize that these unique characteristics function to prevent crossovers. Here, we explore hypotheses about the absence of crossovers on 4, how these have been addressed, and new insig...

Interstitial duplications of 8q12 encompassing CHD7 have recently been described as a new microduplication syndrome. Three 8q12 duplications have been reported with shared recognizable phenotype: Duane anomaly, developmental delay and dysmorphic facial features. We identified a 2.7 Mb duplication on chromosome 8q12 with SNP-array in a patient with growth delay, congenital heart defects, ear ano...

Introduction  Pentasomy 49,XXXXY is a sex chromosome anomaly difficult to be diagnosed prenatally. We describe a patient of pentasomy 49,XXXXY with false low-risk results using a noninvasive prenatal screening (NIPS). A 30-year-old G1P0 woman presented at 33 6/7 weeks, secondary to sonographic fetal anomalies. She had low-risk NIPS at 13 6/7 weeks. Anatomy survey showed bilateral clubfeet, clin...

We report the case of a 35-year-old man admitted due to heart failure, who had had moderate cognitive deficit, craniofacial dysmorphism, epilepsy, panic attacks and congenital heart disease (subvalvular aortic stenosis) associated with chronic atrial fibrillation since childhood. In view of his facial dysmorphism and clinical presentation, karyotype analysis was performed and revealed a de novo...

Here, we report a new case with chromosome 22q11 deletion and cardiac anomaly diagnosed prenatally by echocardiography. Fluorescence in situ hybridization (FISH) analysis demonstrated a heterozygous deletion at 22q11.2. Echocardiography revealed ventricular septal defect, pulmonary atresia, and aneurysm of the main pulmonary artery and its branches. Pulmonary artery aneurysm (PAA) is rarely see...

A complete hematologic remission was achieved in a patient with therapy-related preleukemia and transfusiondependent pancytopenia after treatment with recombinant human granulocyte-macrophage colony-stimulating factor (GM-CSF). The patient remained in remission for nearly 1 year despite the discontinuation of GM-CSF treatment. Several lines of evidence suggest that normal hematopoiesis was rest...

Both the 48,XXYY and the 47,XYY chromosome anomalies are now well-recognized conditions following the first reports by Muldal and Ockey (1960) of the XXYY genotype, and Sandberg et al. (1961) who described an XYY male. This paper presents the findings in 2 patients with 47,XYY/48,XXYY mosaicism, and one patient with the 47,XYY anomaly, discovered among 250 men in a comprehensive hospital for th...

The name Fryns syndrome was given by Lubinsky et all to "a new variable multiple congenital anomaly syndrome" reported by us in 1979.2 We first detected this syndrome in two female sibs who presented with cloudy corneae, diaphragmatic defects, and distal limb deformities.2 The parents were unrelated and normal and chromosome investigation showed normal karyotypes in the parents and in one child...

Recent cytogenetic analysis of a series of human renal oncocytomas revealed the presence of a recurring chromosomal translocation (5;11)(q35;q13) as sole anomaly in a subset of the tumors. The molecular characterization of this translocation was initiated using two primary t(5;11)-positive renal oncocytomas and a panel of somatic cell hybrids derived from one of these tumors, in conjunction wit...