HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

Unbalanced translocation 46,XY,-15,+der(22)t(15;22)(q13;q11)pat: case report and review of the literature.

Abstract
We present a boy with a rare unbalanced translocation 46,XY,-15,+der(22),t(15;22)(q13;q11) pat. Previous reports of similar chromosome findings mention only the Prader-Willi phenotype. At birth, his manifestations included severe hypotonia and lethargy, (typical of deletion of 15pter----q13); hypertelorism, down-slanting small palpebral fissures, preauricular tags, long philtrum (typical of duplication of 22pter----q11); severe laryngotracheomalacia, and proximal implantation of the thumb. In a review of the literature on chromosome abnormalities involving duplication of 22q11 the associated clinical phenotype consists of mild mental retardation, microcephaly, hypotonia, hypertelorism, down-slanting palpebral fissures, a long philtrum, cleft or highly arched palate, and ear abnormalities. Preauricular pits or tags are common. Cardiovascular defects, renal and genital problems and dislocated hips are frequently present. Anal atresia and colobomata are mainly seen in cat-eye syndrome, the phenotype associated with idic 22q11. Our findings indicate that patients with unbalanced t(15;22) can have manifestations of the dup 22q11, in addition to the previously reported Prader-Willi phenotype, even if the duplicated segment is small.
AuthorsJ L Van Hove, A McConkie-Rosell, Y T Chen, A K Iafolla, J T Lanman Jr, M D Hennessy, S G Kahler
JournalAmerican journal of medical genetics (Am J Med Genet) Vol. 44 Issue 1 Pg. 24-30 (Sep 01 1992) ISSN: 0148-7299 [Print] United States
PMID1519645 (Publication Type: Case Reports, Journal Article)
Topics
  • Chromosome Banding
  • Chromosome Deletion
  • Chromosomes, Human, Pair 15
  • Chromosomes, Human, Pair 22
  • Hand Deformities, Congenital (genetics)
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Male
  • Multigene Family
  • Review Literature as Topic
  • Syndrome
  • Translocation, Genetic

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: