Characterization of a heritable partial monosomy 18p by molecular and cytogenetic analysis

✍ Scribed by Rigola, M.A. ;Plaja, A. ;Mediano, C. ;Mir�, R. ;Egozcue, J. ;Fuster, C.

• Publisher: John Wiley and Sons
• Year: 2001
• Tongue: English
• Weight: 130 KB
• Volume: 104
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1584

✦ Synopsis

This report describes the fourth case of heritable 18p monosomy, which was ascertained by prenatal diagnosis. Cytogenetic analysis of amniotic ¯uid cells by G-banding showed an apparently distal 18p chromosome deletion and a derivative X chromosome resulting from a translocation between the X and Y chromosomes. Analysis of peripheral blood lymphocytes from the parents by G-banding revealed the same chromosome 18 deletion in the mother, who did not have the X/Y translocation. Comparative genomic hybridization (CGH) studies con®rmed the loss of chromosome region 18p11.3-pter previously detected, and eliminated the presence of unbalanced reorganizations of other chromosome regions. No subtle translocation was detected by ¯uorescence in situ hybridization (FISH) studies using whole chromosome speci®c painting probes. This is a new report of a heritable 18p monosomy. Although in our case the mother had several minor congenital malformations, the loss of 18p11.3 band was not associated with any obvious phenotypic alteration in the fetus.