Details

Autor(en) / Beteiligte

• Jezela-Stanek, Aleksandra, MD, PhD
• Ciara, Elżbieta, PhD
• Juszczak, Marzena, MSc
• Pelc, Magdalena, MSc
• Materna-Kiryluk, Anna, MD, PhD
• Krajewska-Walasek, Małgorzata, MD, PhD

Titel

Cryptic X; Autosome Translocation in a Boy—Delineation of the Phenotype

Ist Teil von

• Pediatric neurology, 2011-03, Vol.44 (3), p.221-224

Ort / Verlag

New York, NY: Elsevier Inc

Erscheinungsjahr

2011

Quelle

MEDLINE

Beschreibungen/Notizen

• Chromosome X-to-autosome translocations [t(X;A)] are rare rearrangements with an estimated occurrence of 1 to 3 per 10,000 live births. Occurrences of Xq duplications have been observed in male and female subjects in whom the X chromosome segment escapes inactivation and results in functional disomy. We report a case of X;6 translocation in a 7-year-old boy with severe mental retardation, hypotonia, and recurrent respiratory tract infections. High-resolution chromosome analyses (fluorescence in situ hybridization, multiplex ligation probe-dependent amplification, and whole-genome array) revealed a terminal duplication of chromosome X at q28-qter (approximately 3.246 Mb in size) involving gene MECP2 and a terminal deletion (approximately 1.89 Mb) with the breakpoint at 6q27. This is the second report of a boy with a cryptic unbalanced Xq-autosome translocation. This case increases our understanding of mental disability caused by terminal Xq duplication.