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. Cytogene
✦ LIBER ✦
Partial trisomy 4q and monosomy 9p in a girl with severe mental retardation, multiple anomalies and congenital hypoglycaemia
✍ Scribed by Lauda-Świeciak, Anna; Haus, Olga; Kurylak, Danuta; Duszeńko, Ewa; Soszyńska, Krystyna
- Book ID
- 123183072
- Publisher
- Elsevier
- Year
- 2007
- Tongue
- Polish
- Weight
- 313 KB
- Volume
- 82
- Category
- Article
- ISSN
- 0031-3939
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