CONTEXT Tumor suppressor genes act on the control of cell cycle progression. In pediatric neoplasias, some of these genes may be considered to be markers for diagnosis or relapse, thus probably representing prognostic indicators. OBJECTIVE To study the inactivation of the p15 gene in children with acute lymphoblastic leukemia. TYPE OF STUDY Retrospective study. SETTING Laboratory of Molec...

RATIONALE 22q11 deletion syndrome, the most common chromosomal microdeletion disease, is caused by megabase-sized deletions on chromosome 22q11.2. It is characterized by a wide spectrum of congenital anomalies in velopharyngeal and facial, cardiac, genitourinary, vertebroskeletal, respiratory, digestive, and central nervous systems. Phenotype-genotype studies have revealed several causative gen...

The article presents a literature review of chromosomal deletion syndrome – terminal the long arm chromosome 11, Jacobsen syndrome, manifested by skeletal abnormalities, congenital heart defects, developmental delay, autism. disease is clinical interest in connection with specific phenotype and life-threatening, but potentially curable conditions: bleeding immunodeficiency. analysis information...

A new case of a deletion of 10q23 is described. Only two other deletions involving this region have been previously noted. A review of clinical features of these three children did not show a distinct pattern of dysmorphic features. Other interstitial deletions of 10q are listed.

OBJECTIVE The deletion of the short arm of chromosome 18 is thought to be one of the rare chromosomal aberrations. Here, we report a case to review this disease. CASE REPORT The proband is a five-and-a-half-year-old girl who has had phenotypes manifested mainly by ptosis, broad face, broad neck with low posterior hairline, mental retardation, short stature, and other malformations. Chromosoma...

Translocations between the Y chromosome and an autosome are rare. We report a phenotypic male with a translocation between the Y chromosome and chromosome 6p, leading to partial 6p monosomy and XX male syndrome. He is the second child to be reported with this karyotype. Phenotypic findings included growth retardation, severe developmental delay, a Dandy-Walker malformation, cardiac and urogenit...

Interstitial deletions of the long arm of chromosome 2, involving band 2q24, have been described on three occasions. We report our findings in a further case, in which we mapped the deletion to band 2q24.3.

BACKGROUND Deletion in the chromosomal region 22q11 results from the abnormal development of the third and fourth pharyngeal pouches during embryonic life and presents an expansive phenotype with more than 180 clinical features described that involve every organ and system. HISTORY AND SIGNS A 23-year-old African woman presented for the first trimester echography, which revealed an isolated a...

Interstitial deletions of the long arm of chromosome 3 have, to our knowledge, been reported in only eleven patients; detailed genotype- phenotype correlations are not well established. Here we describe a case with interstitial deletion involving 3q25.33 region. Dysmorphic features and developmental delay lead to clinical genetic and enzyme assessment. Low alpha-hexosaminidase level is also not...

Case Base maintenance can be crucial to CBR system performance. A central current of case base maintenance research focuses on competence-based deletion. Traditionally, deletion is done periodically, pausing CBR system processing to examining the entire case base. However, for streaming data, as often arises in big data contexts, such an approach may be expensive or infeasible. To address this ...