A classic example is the small 11p interstitial deletion
in Wilms tumor and aniridia, which could only be shown via fluorescence in situ hybridization or multiplex ligation-dependent probe amplification.
Several genetic abnormalities are found in the 15q11-q13 region, including: a de novo interstitial deletion
of maternal 15q11-q13 in ~75% of cases (4 Mb deletion), paternal uniparental disomy in 2%, an imprinting center mutation in 2%, and a point mutation in E3 ubiquitin protein ligase gene (UBE3A) in 5-10% .
Array comparative genomic hybridization revealed a loss of 24 consecutive oligonucleotide probes, thus showing hemizygous interstitial deletion
on chromosome Xp21.
Cytogenetics revealed a 46XX chromosome complement with an interstitial deletion
of the long arm of chromosome 5 [del(5)(q15q33)].
A micro-deletion at chromosome 22q11, the most frequent interstitial deletion
found in humans, has been implicated in the onset of schizophrenia.
Ectro-amelia syndrome associated with an interstitial deletion
1q42 in a patient with agenesis of corpus callosum: Phenotype-genotype comparison to the 1q41q42 microdeletion suggests a contiguous 1q4 syndrome.
Acute lymphoblastic leukemia in a patient with Greig cephalopolysyndactyly and interstitial deletion
of chromosome 7 del(7)(p11.
Some of the genetic disorders associated with infantile spasms are X-linked cyclin-dependent kinase-like 5 (CDKL5 or Stk9) disruption, (6) deletion of the membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2) gene, (7) disruption of the serine/threonine kinase 9 gene, (8) distal 7q duplication syndrome, (9) expansion of the first PolyA tract of aristaless-related homeobox gene (ARX), (10) filamin A (FLNA) mutations, (11) and interstitial deletion
Based on the results, an interstitial deletion
was found in chromosome 9 and a three-way translocation was verified between chromosomes 8, 17 and 21.
Neurologists, pediatricians, behavioral psychologists, geneticists, and others from Italy and the US discuss evaluating children with intellectual disabilities, the biological profile of Down Syndrome, neurobiological advances in the Fragile X family of disorders, idiopathic hypoparathyroidism and chromosome 10p deletion, cognitive enrichment, rehabilitation issues, narrative based medicine, and life span development in Turner Syndrome, Klinefelter Syndrome, XYY, Nance-Horan Syndrome, and interstitial deletion
of chromosome 21.
Of 3 cytogenetically informative cases, one revealed a clonal balanced translocation t(10;17)(q22;p13) and an interstitial deletion
of chromosome 14, del(14)(q24.