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Case Reports
. 2015 Aug 12:8:64.
doi: 10.1186/s13039-015-0169-9. eCollection 2015.

An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4

Nikoletta Selenti  1 , Maria Tzetis  1 , Maria Braoudaki  1 , Krinio Gianikou  1 , Sofia Kitsiou-Tzeli  1 , Helen Fryssira  1
Affiliations
Case Reports

An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4

Nikoletta Selenti et al. Mol Cytogenet. .

Erratum in

Abstract

Background: There are three distinct subtypes of Trichorhinophalangeal syndrome (TRPS); TRPS type I, TRPS type II and TRPS type III. Features common to all three subtypes include sparse, slowly growing scalp hair, laterally sparse eyebrows, a bulbous tip of the nose (pear-shaped), and protruding ears. Langer-Giedion syndrome (LGS) or TRPS type II is a contiguous gene syndrome on 8q24.1, involving loss of functional copies of the TRPS1 and EXT1 genes. We report a male patient that was referred to the Department of Medical Genetics due to hypotonia and dysmorphic facial features.

Results: Cytogenetic and array- Comparative Genomic Hybridization (aCGH) analysis revealed that the patient was a carrier of an interstitial deletion at 8q23.1-q24.12 of 12,5 Mb. Parental karyotype indicated that the father carried an apparently balanced insertion: 46, ΧΥ, der(10)ins(10;8)(q22;q23q24).

Conclusions: This is the first report of an apparently balanced insertion including chromosomes 8 and 10 contributing to the etiology of LGS/ TRPS type II. Τimely diagnosis of parental balanced chromosomal rearrangements can reduce the risk of subsequent miscarriages as well as abnormal offspring.

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Figures

Fig. 1
Fig. 1
Dysmorphic features in a LGS patient, that was referred to our Department of Medical Genetics. a A bulbous tip of the nose, a long and flat philtrum and a thin upper lip vermilion, b large laterally protruding ears and a depressed and broad nasal bridge and c pre-axial polydactyly
Fig. 2
Fig. 2
Cytogenetic analysis. G-banded chromosomal analysis from the peripheral blood of the LGS patient displayed a male karyotype with an apparent deletion on one chromosome 8q (46,XY, del(8)(q23 → q24)pat)
Fig. 3
Fig. 3
Molecular cytogenetic analysis. Whole genome array-CGH revealed an interstitial deletion at 8q23.1-q24.12 of 12,5 Mb (HGVS:NC_000008.10:g.(?_108,776,506)_(121,312,414_?)del; GRCh37/hg19) in our LGS patient
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