Chromosome 1p32-p31 deletion syndrome: Prenatal diagnosis by array comparative genomic hybridization using uncultured amniocytes and association with NFIA haploinsufficiency, ventriculomegaly, corpus callosum hypogenesis, abnormal external genitalia, and intrauterine growth restriction
Author:
Funder
National Science Council
Mackay Memorial Hospital
Publisher
Elsevier BV
Subject
Obstetrics and Gynecology
Reference24 articles.
1. NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects;Lu;PLoS Genet,2007
2. 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;Koehler;Eur J Pediatr,2010
3. De novo interstitial deletion of chromosome 1p with absent corpus callosum – a case report;Sivasankaran;Ann Acad Med Singapore,1997
4. Interstitial microdeletion of chromosome 1p in two siblings;Campbell;Am J Med Genet,2002
5. Detection of an interstitial deletion of 2q21-22 by high resolution comparative genomic hybridization in a child with multiple congenital anomalies and an apparent balanced translocation;Shanske;Am J Med Genet,2004
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