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Subtelomeric 6.7 Mb trisomy 10p and 5.6 Mb monosomy 21q detected by FISH and array-CGH in three related patients.

Abstract
Cryptic subtelomeric chromosomal aberrations are responsible for 5-10% of moderate/severe and 1% of mild intellectual disability. Unbalanced subtelomeric chromosomal rearrangements result in variable phenotypes which seem to be highly influenced by both the size of the duplication/deletion and the chromosomes involved in the translocation. We report on three related patients with moderate intellectual disability, language delay, hypotonia, facial dysmorphism, cardiac anomalies, scoliosis, and kyphosis in whom a familial (maternal) unbalanced submicroscopic translocation was found by subtelomeric fluorescence in situ hybridization (FISH). This rearrangement resulted in a partial trisomy 10pter and partial monosomy 21qter. The karyotype was 46,XY.ish der(21)t(10;21)(p14;q22.2). Confirmation of a 6.7 Mb size distal duplication of the p15.3-14 region of chromosome 10 and a 5.6 Mb distal deletion of the q22.2-22.3 region of chromosome 21 was obtained by array-CGH. To our best knowledge, such a composition of subtelomeric unbalanced translocations has not yet been published. Detection of this aberration in successive pregnancies of carrier members of the family by prenatal FISH could prevent the recurrence of the disease. Furthermore, detection of the rearrangements and identification of genes located in the chromosomal regions involved might be of interest.
AuthorsGabriella P Szabó, Alida C Knegt, Anikó Ujfalusi, Erzsébet Balogh, Tamás Szabó, Éva Oláh
JournalAmerican journal of medical genetics. Part A (Am J Med Genet A) Vol. 158A Issue 4 Pg. 869-76 (Apr 2012) ISSN: 1552-4833 [Electronic] United States
PMID22407767 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
CopyrightCopyright © 2012 Wiley Periodicals, Inc.
Topics
  • Abnormalities, Multiple (genetics)
  • Child
  • Child, Preschool
  • Chromosome Aberrations
  • Chromosome Deletion
  • Chromosome Disorders (genetics)
  • Chromosomes, Human, Pair 10 (genetics)
  • Chromosomes, Human, Pair 21 (genetics)
  • Comparative Genomic Hybridization
  • Facies
  • Humans
  • In Situ Hybridization, Fluorescence
  • Intellectual Disability (genetics)
  • Karyotype
  • Kyphosis (genetics)
  • Language Development Disorders (genetics)
  • Male
  • Monosomy (genetics)
  • Muscle Hypotonia (genetics)
  • Scoliosis (genetics)
  • Trisomy (genetics)
  • Young Adult

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