| Autor: |
Neas KR; Department of Clinical Genetics, The Children's Hospital at Westmead, NSW, Australia. kathern2@chw.edu.au, Chia N, Clarke M, Peters G, Adès LC |
| Jazyk: |
angličtina |
| Zdroj: |
Clinical dysmorphology [Clin Dysmorphol] 2003 Jul; Vol. 12 (3), pp. 179-81. |
| DOI: |
10.1097/01.mcd.0000072162.33788.8d |
| Abstrakt: |
We describe the phenotypic features in a newborn infant with an unbalanced translocation 46,XY, der(22) inv(4) (p14p16.1) t(4;22) (p15.1;q13.31)pat. The phenotype was consistent with partial trisomy 4p syndrome. Severe bilateral hydronephrosis was diagnosed at a 31 week prenatal ultrasound scan. Both the patient phenotype and the partial trisomy are unusual, the latter due to the complex nature of the chromosomal rearrangement. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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