Disease relevance of Chromosome Deletion

• A bone marrow aspirate revealed neuroblastoma, and cytogenetic studies on tumor cells revealed, in addition to the partial trisomy #15 and probable partial monosomy #13, hypotetraploidy with a mean chromosome number of 82-84, including 3 or 4 copies of each autosome, 2 X chromosomes, no Y chromosome, and a marker [1].
• The diagnostic value of laparoscopy is discussed in the cases of pure gonadal dysgenesis and in variants of Turner's syndrome chromatin-positive with X chromosome partial monosomy and chromatin-negative with a Y chromosome [2].
• DiGeorge syndrome (DGS) is predominantly caused by partial monosomy 22q11, but a subset of patients with DGS show deletions of 10p or other chromosomal abnormalities [3].

High impact information on Chromosome Deletion

• Complete or partial monosomy with respect to the X chromosome is the genetic basis of Turner syndrome in human females [4].
• Molecular mapping of 21 features associated with partial monosomy 21: involvement of the APP-SOD1 region [5].
• We have tested this hypothesis by high resolution physical mapping of FRA11B and of the deletion chromosome breakpoint in the Jacobsen syndrome patient [6].
• We therefore conclude that HDR syndrome can be associated with partial monosomy 10p [7].
• Simultaneous partial monosomy 10p and trisomy 5q in a case of hypoparathyroidism [8].

Biological context of Chromosome Deletion

• Turner syndrome is the complex human phenotype associated with complete or partial monosomy X [9].
• The tumors with partial monosomy included four with terminal deletions and one with a deletion of the centromeric part of the long arm of chromosome 22 [10].
• Furthermore, FISH mapping of two patients with partial monosomy 21 using YAC and cosmid clones allowed us to define more accurately the telomeric border of the critical region between markers S226 and S213 [11].

Anatomical context of Chromosome Deletion

• Expression and mutation analysis of BRUNOL3, a candidate gene for heart and thymus developmental defects associated with partial monosomy 10p [12].

Gene context of Chromosome Deletion

• Furthermore, we created a loss-of-function mutation in the mouse Lmbr1 gene that causes digit number reduction (oligodactyly) on its own and in trans to a deletion chromosome [13].
• We constructed a deletion map of partial monosomy 10p patients and narrowed the critical region DGCR2 to about 300 kb [12].
• 4. Five patients with short stature with SHOX haplo-insufficiency were detected: three had Madelung deformity (inherited Yq;Xp translocation, de novo PAR deletion, and SHOX microdeletion), and two had de novo/inherited Xp partial monosomy [14].
• In one subclone, which has retained the deletion chromosome but not the homologous normal copy, we have demonstrated the presence of the human ESD gene sequence [15].
• The enzymatic activity of phosphoribosylglycinamide synthetase (GARS) has been studied in several cases of partial monosomies and full and partial trisomies 21 [16].

References