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A novel 1p31.3p32.2 deletion involving the NFIA gene detected by array CGH in a patient with macrocephaly and hypoplasia of the corpus callosum |
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| Authors: | Udo Koehler Elke Holinski-Feder Birgit Ertl-Wagner Juergen Kunz Arpad von Moers Hubertus von Voss Chayim Schell-Apacik |
| Affiliation: | 1. Medizinisch Genetisches Zentrum München, Bayerstr. 3-5, 80335, Munich, Germany 3. Institute of Clinical Radiology, Klinikum Gro?hadern, Ludwig-Maximilians-University, Munich, Germany 2. Institute of Medical Molecular Diagnostics, Berlin, Germany 5. DRK Children’s Hospital, Berlin, Germany 4. Institute of Social Pediatrics and Adolescent Medicine of the Ludwig-Maximilians-University, Munich, Germany 6. Practice of Human Genetics, Berlin, Germany |
| Abstract: | Interstitial deletions or apparently balanced translocations involving bands 1p31 and 1p32 in the short arm of chromosome 1 are rarely described chromosomal imbalances. To our knowledge, there have been six cases documented to date. Five of these cases, where the NFIA gene is involved, show complex central nervous system malformations and in some cases urinary tract defects. We report another case of a microdeletion with involvement of the NFIA gene in the short arm of chromosome 1 (del(1)(p31.3p32.2)) with, amongst other features, hypoplasia of the corpus callosum, ventriculomegaly, and dysmorphic features. A microdeletion 1p31.3p32.2 which includes the NFIA gene is associated with hypoplasia of the corpus callosum, ventriculomegaly, and dysmorphic features. |
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