Initial testing of children with psychomotor delays considers karyotype analysis
and metabolic tests. However, introduction of Array Comparative Genomic
Hybridization (ACGH) has become the standard method of diagnostics
worldwide. ACGH is a highly sensitive method which enables detection of
unbalanced chromosomal aberrations and aneuploidies. In this case report, a
patient is a sixteen year old girl born to unrelated parents with mild
mental retardation and psychomotor delay, hyperacusis, epilepsy, silent nasal
speech, clinodactyly of the V finger on left hand, as well as low set ears. Patient
had a karyotype interpreted as normal using GTG band analysis. Array CGH
was performed using Agilent SurePrint G3 custom CGH+SNP Microarray
8x60K (UCSC, hg19, NCBI Build 37, February,2009). Results were
analyzed by CytoGenomics 3.0 Agilent software. Results of aCGH revealed
clinically significant duplication of 17q25.1-q25.3 region with the size
of~7.96Mb. Within the duplicated region 217 genes are present, of which 36 are
described as OMIM morbid. Duplications of similar size are described in
DECIPHER date base in patients with psychomotor delay, hyperactivity
and neoplasm of CNS. Besides duplication, a ~755kb clinically significant
deletion was detected in the 17q25.3 region. Deletion involves 18 genes of which
2 are described as OMIM morbid: TBCD (MIM604649) and ZNF750
(MIM610226). Patient with similar deletion was described in DECIPHER date
base with notable psychomotor delay. Based on these results FISH analysis
is recommended for both parents in order to determine the possible carrier
of inversion in the region of 17qter.
