The first child (proband) of nonconsanguineous Caucasian parents underwent 
genetic investigation because she was affected with congenital choanal atresia, 
heart defects and kidney hyposplasia with mild transient renal insufficiency. 
The direct DNA sequencing after PCR of the CHD7 gene, which is thought to be 
responsible for approximately 60-70% of the cases of CHARGE 
syndrome/association, found no mutations. The cytogenetic analysis (standard GTG 
banding karyotype) revealed the presence of extrachromosomal material on 10q. 
The chromosome analysis was completed with array CGH (30 kb resolution), MLPA 
and FISH, which allowed the identification of three 6p regions (6p.25.3p23 × 3): 
2 of these regions are normally located on chromosome 6, and the third region is 
translocated to the long arm of chromosome 10. The same chromosomal 
rearrangement was subsequently found in the father, who was affected with 
congenital ptosis and progressive hearing loss, and in the proband's sister, the 
second child, who presented at birth with choanal atresia and congenital heart 
defects. The mutated karyotypes, which were directly inherited, are thought to 
be responsible for a variable phenotype, including craniofacial dysmorphisms, 
choanal atresia, congenital ptosis, sensorineural hearing loss, heart defects, 
developmental delay, and renal dysfunction. Nevertheless, to achieve a complete 
audiological assessment of the father, he underwent further investigation that 
revealed an increased level of the coagulation factor XIII (300% increased 
activity), fluctuating levels of fibrin D-dimer degradation products (from 296 
to 1,587 ng/ml) and a homoplasmic mitochondrial DNA mutation: T961G in the 
MTRNR1 (12S rRNA) gene. He was made a candidate for cochlear implantation. 
Preoperative high-resolution computed tomography and magnetic resonance imaging 
of the temporal bone revealed the presence of an Arnold-Chiari malformation type 
I. To the best of our knowledge, this study is the second report on partial 6p 
trisomy that involves the 10q terminal region. Furthermore, we report the first 
case of documented Arnold-Chiari malformation type I and increased factor XIII 
activity associated with 6p trisomy. We present a comprehensive report of the 
familial cases and an exhaustive literature review.