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

Gabriella P. Szabó, Alida C. Knegt, Anikó Ujfalusi, Erzsébet Balogh, Tamás Szabó, E. Oláh

Research output: Contribution to journalArticle

5 Citations (Scopus)

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 6.7Mb size distal duplication of the p15.3-14 region of chromosome 10 and a 5.6Mb 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.

Original languageEnglish
Pages (from-to)869-876
Number of pages8
JournalAmerican Journal of Medical Genetics, Part A
Volume158 A
Issue number4
DOIs
Publication statusPublished - Apr 2012

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Monosomy
Chromosome Deletion
Fluorescence In Situ Hybridization
Intellectual Disability
Chromosome Duplication
Language Development Disorders
Chromosomes, Human, Pair 21
Chromosomes, Human, Pair 10
Kyphosis
Muscle Hypotonia
Gene Rearrangement
Trisomy
Scoliosis
Karyotype
Chromosome Aberrations
Mothers
Phenotype
Recurrence
Pregnancy
Trisomy 10p Chromosome 10

Keywords

  • 10p trisomy
  • 21qter deletion
  • Intellectual disability
  • Subtelomeric FISH

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Medicine(all)

Cite this

Subtelomeric 6.7Mb trisomy 10p and 5.6Mb monosomy 21q detected by FISH and array-CGH in three related patients. / Szabó, Gabriella P.; Knegt, Alida C.; Ujfalusi, Anikó; Balogh, Erzsébet; Szabó, Tamás; Oláh, E.

In: American Journal of Medical Genetics, Part A, Vol. 158 A, No. 4, 04.2012, p. 869-876.

Research output: Contribution to journalArticle

Szabó, Gabriella P. ; Knegt, Alida C. ; Ujfalusi, Anikó ; Balogh, Erzsébet ; Szabó, Tamás ; Oláh, E. / Subtelomeric 6.7Mb trisomy 10p and 5.6Mb monosomy 21q detected by FISH and array-CGH in three related patients. In: American Journal of Medical Genetics, Part A. 2012 ; Vol. 158 A, No. 4. pp. 869-876.
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