FLOURESCENT IN SITU HYBRIDIZATION AND MOLECULAR ANALYSIS OF A SHORT GIRL WITH A 45,X/46,X, idic(X)(qter->p12.3::p12.3->qter) KARYOTYPE
Kitsiou S1,*, Mavrou A1, Kolialexi A1, Sofocleous C1, Bakoula C2, Kanavakis E1, Dakou-Voutetakis C3
*Corresponding Author: Sofia Kitsiou, Associate Professor Medical Genetics, Athens University School of Medicine, “Aghia Sophia” Children’s Hospital, Thivon and Levadias Street, Athens 11 527, Greece; Tel.: +30-2107467463; Fax: +30-2107795553; E-mail: skitsiou@med.uoa.gr
page: 39

INTRODUCTION

The Short stature homebox (SHOX)-containing gene, normally located on the distal pseudoautosomal region (PAR1) of chromosomes X (p22.3) and Y (p11.3) has been cloned [1,2]. The SHOX escapes inactivation, is expressed by both sex chromosomes in males and females, and deletions and mutations of SHOX have been related to short stature which constitutes a constant finding in Tur­ner’s syndrome [2,3]. Deletions of SHOX have also been described in patients with growth retardation and struc­tural abnormalities on Xp22 or Yp11.3 [3]. Complete deletions or point mutations of SHOX have been found in 60-100% of patients with Leri-Weill Dyschondrosteosis syndrome (LWD) and in approximately 1% of patients with idiopathic short stature [4-6].
We report on a young girl with short stature and a karyotype consisting of 45,X/46,X,idic(X)(qter>p12.3: :p12.3> qter). Through fluorescent in situ hybridization (FISH) and molecular analysis the SHOX dosage, the breakpoints and the parental origin of the abnormal X chromosome were defined.




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