Total: 1 |
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PMID (PMCID) | ||
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11491308 |
FEMALE | Infant |
Combined trisomy 9P and Shprintzen syndrome resulting from a paternal t(9;22). | ||
Komatsu H, Kihara A, Komura E, Mitsufuji N, Tsujii H, Kakita S, Ikuta H. Genet Couns. 2001;12(2):137-43. |
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In addition to the clinical features characteristic of trisomy 9p syndrome, the patient had Truncus arteriosus type A2, bilateral hydronephrosis, palatal anomaly, retrognathia, and laryngeal hypotonia, which are likely to be attributed to 22q11.2 deletion. |