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New case of mosaic tetrasomy 9p with additional neurometabolic findings

✍ Scribed by Eggermann, Thomas; Rossier, Eva; Theurer-Mainka, Ute; Backsch, Claudia; Klein-Vogler, Ute; Enders, Herbert; Kaiser, Peter

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 16 KB
Volume: 75
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19980217)75:5<530::aid-ajmg14>3.0.co;2-l

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✦ Synopsis

Tetrasomy 9p is a rare chromosomal aberration that was described in 28 previous patients. Here we report on a newborn girl who was referred for genetic evaluation because of developmental delay, hypertonicity, microcephaly, minor anomalies, and neurometabolic findings. She had an isochromosome 9p (pter → p10 → pter) in 32% of blood cells. The extra chromosome was not found in amniocytes. Examination of fibroblasts from different skin biopsies also showed mosaicism in this tissue. In a first biopsy from the abdominal wall, the cells (n = 50) had a normal chromosomal complement. Further analysis of fibroblasts from the left forearm showed the isochromosome 9p in 5 out of 8 mitoses. Fluorescence in situ hybridization (FISH), using a whole chromosome 9 probe, confirmed that the extra marker was 9 in origin. Molecular studies showed that the isochromosome was of maternal origin. Meiotic nondisjunction was followed by centromeric misdivision and postzygotic loss of the marker. Am.

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