Replication banding and molecular studies of a mosaic, unbalanced dic(X;15)(Xpter→Xq26.1::15p11→15qter)

A. Scheuerle, J. L. Zenger-Hain, D. L. Van Dyke, D. H. Ledbetter, F. Greenberg, L. G. Shaffer

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

We present a patient with a chromosomal mosaicism involving the X chromosome. One cell line is 45,X and the other has a de novo paternally derived dicentric X;15 translocation. Her karyotype is therefore 45,X/45,X,dic(X;15)(Xpter→Xq26.1::15p11→15 qter) based on G-banding. The presence of 2 centromeres on the derivative X was confirmed by fluorescence in situ hybridization (FISH) and a deletion of Xq26.1→qter was confirmed by polymerase chain reaction (PCR) using DXS52 and DXYS154. Replication banding studies indicate that the derivative X is late replicating. Based on these studies, it is unclear whether inactivation has spread to proximal 15q. The patient has a unique phenotype distinct from Ullrich-Turner or Prader-Willi syndromes, but includes ataxia and language delay which are commonly seen in Angelman syndrome. These findings are contrary to those anticipated since deficiency of paternal genes at 15q12 typically leads to Prader-Willi syndrome. Molecular analysis of PCR-based polymorphisms of chromosome 15 and X indicates that uniparental disomy is not present for the X chromosome or chromosome 15 in either cell line. It is hypothesized that her phenotype results from the interaction of the 2 abnormal genotypes. Each abnormality may be diluted by the mosaicism and, in the derivative X line, by the possible variation among cells of inactivation spreading to chromosome 15.

Original languageEnglish (US)
Pages (from-to)403-408
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume56
Issue number4
StatePublished - 1995
Externally publishedYes

Fingerprint

Chromosomes, Human, Pair 15
Prader-Willi Syndrome
Mosaicism
X Chromosome
Angelman Syndrome
Uniparental Disomy
Language Development Disorders
Phenotype
Cell Line
Polymerase Chain Reaction
Centromere
Ataxia
Fluorescence In Situ Hybridization
Karyotype
Genotype
Genes

Keywords

  • de novo paternal deletion
  • FISH
  • inactivation
  • mosaicism
  • PCR
  • X chromosome

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Scheuerle, A., Zenger-Hain, J. L., Van Dyke, D. L., Ledbetter, D. H., Greenberg, F., & Shaffer, L. G. (1995). Replication banding and molecular studies of a mosaic, unbalanced dic(X;15)(Xpter→Xq26.1::15p11→15qter). American Journal of Medical Genetics, 56(4), 403-408.

Replication banding and molecular studies of a mosaic, unbalanced dic(X;15)(Xpter→Xq26.1::15p11→15qter). / Scheuerle, A.; Zenger-Hain, J. L.; Van Dyke, D. L.; Ledbetter, D. H.; Greenberg, F.; Shaffer, L. G.

In: American Journal of Medical Genetics, Vol. 56, No. 4, 1995, p. 403-408.

Research output: Contribution to journalArticle

Scheuerle, A, Zenger-Hain, JL, Van Dyke, DL, Ledbetter, DH, Greenberg, F & Shaffer, LG 1995, 'Replication banding and molecular studies of a mosaic, unbalanced dic(X;15)(Xpter→Xq26.1::15p11→15qter)', American Journal of Medical Genetics, vol. 56, no. 4, pp. 403-408.
Scheuerle A, Zenger-Hain JL, Van Dyke DL, Ledbetter DH, Greenberg F, Shaffer LG. Replication banding and molecular studies of a mosaic, unbalanced dic(X;15)(Xpter→Xq26.1::15p11→15qter). American Journal of Medical Genetics. 1995;56(4):403-408.
Scheuerle, A. ; Zenger-Hain, J. L. ; Van Dyke, D. L. ; Ledbetter, D. H. ; Greenberg, F. ; Shaffer, L. G. / Replication banding and molecular studies of a mosaic, unbalanced dic(X;15)(Xpter→Xq26.1::15p11→15qter). In: American Journal of Medical Genetics. 1995 ; Vol. 56, No. 4. pp. 403-408.
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