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

Abstract

 

A 10.5-year-old girl, referred for genetic evaluation because of short stature, had a karyotype 45,X [30%]/ 46,X, idic(X)(qter_p12.3::p12.3_qter) [70%]. Whole chromosome painting revealed homogeneous painting of the abnormal X chromosome. Fluorescent in situ hybrid­ization (FISH) studies with a satellite X (DXZ1), Xp/Yp telomeres and the Short stature homebox (SHOX) probe showed one hybridization signal for each probe used on the normal X chromosome. On the abnormal idic (X) chro­mosome, two centromeres were displayed with DXZ1 and there were no signals for the telomeres Xp/Yp and the SHOX gene. Polymerase chain reaction (PCR) amplifica­tion of polymorphic regions on the X chromosome (DYSI, DYSII, NM, STR44, STR45, STR49, STR50 and STRHI loci of the dystrophin gene on Xp21.1, CGG region of FMR-1 gene and regions DXS548 and FRAXAC2 on Xq and CAG repeat of the androgen receptor gene on Xq11.2-12) was performed to determine the missing regions and parental origin of the abnormal idic (X) chromosome. The analysis produced little information for most of the loci examined. Nevertheless, the findings indicate that the idic (X) chromosome is most likely of maternal origin and that the breakpoints on the Xps were distal to the DMD gene.

Key words: Fluorescent in situ hybridization (FISH), Isodicentric X, Turner’s syndrome, Short stature homebox (SHOX).




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