An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4.
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.
Department of Medical Genetics, Aghia Sophia Childrens' Hospital, Athens University, School of Medicine, Thivon and Levadeias 11527, Goudi, Athens, Greece.
Nikoletta
N
Selenti
Department of Medical Genetics, Aghia Sophia Childrens' Hospital, Athens University, School of Medicine, Thivon and Levadeias 11527, Goudi, Athens, Greece.
Maria
M
Tzetis
Department of Medical Genetics, Aghia Sophia Childrens' Hospital, Athens University, School of Medicine, Thivon and Levadeias 11527, Goudi, Athens, Greece.
Maria
M
Braoudaki
Department of Medical Genetics, Aghia Sophia Childrens' Hospital, Athens University, School of Medicine, Thivon and Levadeias 11527, Goudi, Athens, Greece.
Krinio
K
Gianikou
Department of Medical Genetics, Aghia Sophia Childrens' Hospital, Athens University, School of Medicine, Thivon and Levadeias 11527, Goudi, Athens, Greece.
Sofia
S
Kitsiou-Tzeli
Department of Medical Genetics, Aghia Sophia Childrens' Hospital, Athens University, School of Medicine, Thivon and Levadeias 11527, Goudi, Athens, Greece.
Helen
H
Fryssira