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Partial 9p monosomy in a girl with a tdic(9p23;13p11) translocation, minor anomalies, obesity, and mental retardation

✍ Scribed by Serra, Angelo; Bova, Renato; Bellanova, Grazia; Chindemi, Antonino; Zappata, Stefania; Brahe, Christina

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 29 KB
Volume: 71
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19970808)71:2<139::aid-ajmg4>3.0.co;2-t

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✦ Synopsis

We report on a case with a partial monosomy for the regions 9p23 → pter and 13p11 → pter as a result of a de novo translocation (9p23;13p11). The patient, a 16year-old girl, has mental deficiency, obesity, and minor anomalies, including trigonocephaly, hypertelorism and a short, broad neck. Cytogenetic and microsatellite marker analysis allowed us to assign the breakpoint to the chromosomal region 9p23, flanked by the markers D9S144 and D9S157. In an attempt to establish a phenotypegenotype correlation, the clinical manifestations present in our patient are compared to those with partial 9p monosomy and breakpoint in p23, referred to in the literature.

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