The t(11;14)(q13;q32) results in up-regulation of cyclin D1 and is the most common translocation detected in multiple myeloma, where it is also associated with a lymphoplasmacytic morphology. We performed an interphase fluorescent in situ hybridization (FISH) study to determine the clinical and biologic significance of the abnormality when testing a large cohort of myeloma patients. Bone marrow...

We report a female with a deletion of 9p and concomitant duplication of 16q [46,XX,-9,+der(9),t(9;16)(p24;q13)]. Parental chromosome analysis showed a balanced maternal translocation [46,XX,t(9;16)(p24;q13)]. Three other cases of translocations involving chromosomes 9 and 16 have been reported, one of them with identical breakpoints. A review of published reports of deletion 9p and duplication ...

Copy number variations (CNVs) are an important cause of ASD and those located at 15q11-q13, 16p11.2 and 22q13 have been reported as the most frequent. These CNVs exhibit variable clinical expressivity and those at 15q11-q13 and 16p11.2 also show incomplete penetrance. In the present work, through multiplex ligation-dependent probe amplification (MLPA) analysis of 531 ethnically admixed ASD-affe...

New insights into biological factors that underlie autism may be gained by comparing autism to other neurodevelopmental disorders that have autistic features and relatively well-delineated genetic etiologies or neurobiological findings. This review moves beyond global diagnoses of autism and instead uses an endophenotypic approach to compare specific clusters of autistic symptomatology to featu...

Acute megakaryoblastic leukemia (AMKL) with t(1;22) (p13;q13) is an extremely rare subtype of acute myeloid leukemia that is almost always described in infants. t(1;22) (p13;q13)-positive AMKL with extramedullary infiltration has been previously reported only once in the literature. Herein, we report a 3-month-old infant presenting with a pelvic mass and pancytopenia suggesting neuroblastoma. B...

BACKGROUND Human chromosome 15q11-q13 is a critical region for Prader-Willi syndrome (PWS) and Angelman syndrome (AS) and most of the genes are under the condition of imprinting mechanism. PWS results from the loss of expression of paternally expressed genes and AS of maternally expressed genes. In this study molecular studies about a patient with congenital anomalies and mental retardation are...

The androgen receptor (AR) poly-glutamine polymorphism (AR-Q) was reported to play role in endometrial cancer (EMCA) development, yet controversial. Environmental factors interact with genetic variation have been reported in EMCA. Aerosol toxins, polycyclic aromatic hydrocarbon benzo[a]pyrene (BaP), are EMCA facilitators. This report examined the interplay between AR-Qs and BaP in EMCA. During ...

The evaluation of potato germplasm for resistance to potato tuberworm, Phthorimaea operculella (Zeller) (Lepidoptera: Gelechiidae), is a valuable component of integrated pest management; however, few attempts have been made to identify natural genetic tuber resistance to tuberworm on potato germplasm. The objective of this study was to screen potato germplasm with potential tuberworm resistance...