ARRAY-BASED COMPARATIVE GENOMIC HYBRIDIZATION
ANALYSIS IN CHILDREN WITH DEVELOPMENTAL
DELAY/INTELLECTUAL DISABILITY
Türkyılmaz A, Geckinli BB, Tekin E, Ates EA, Yarali O, Cebi AH, Arman A
*Corresponding Author: Ayberk Türkyılmaz, M.D., Assistant Professor, Department of Medical Genetics,
Karadeniz Technical University Faculty of Medicine, Farabi Street, 61080 Ortahisar, Trabzon,
Turkey. Tel: +90-505-812-03-34. Fax: +90-462-377-51-06. E-mail: ayberkturkyilmaz@gmail.com
page: 15
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RESULTS
The study included 139 cases (77 females, 62 males)
who met the patient selection criteria. The mean age was 6.3
± 5.1 (range 1.0-25.0). Data analysis revealed 38 different
CNVs in 35 cases. The average size of CNVs was 7.01 ±
11.38 Mb (range 0.215-50.379 Mb). Of the 38 CNVs, 19
were gains and 19 were losses. Additionally, 73.6% (28/38)
of all CNVs were de novo, whereas 26.4% (10/38) were
inherited. The CNVs were divided into three groups according
to their pathogenicity: 21 were pathogenic, 10 were VUS
(five VUS, likely pathogenic; four VUS, no subclassification;
one VUS, likely benign), and seven were benign. Of the
pathogenic CNVs, 10 (47.6%) were gains and 11 (52.4%)
were losses. Pathogenic CNVs were further grouped by size:
two (9.5%) were <1.0 Mb, five (23.7%) were 1.0-3.0 Mb,
seven (33.4%) were 3.0-10.0 Mb, seven (33.4%) were >10.0
Mb. In addition, 66.6% (14/21) of the pathogenic CNVs were
de novo, whereas 33.4% (7/21) were inherited. Two of the
inherited pathogenic CNVs were inherited from a parent
with a similar phenotype (one maternal and one paternal) and
one from a healthy parent (maternal). Of the four inherited
pathogenic CNVs, two resulted due to healthy carrier parents
of balanced reciprocal translocation and two due to inversion.
In two cases, more than one pathogenic CNVs was detected.
In this study, 19 cases with pathogenic CNVs (13.6%,
n = 19) and five cases with likely pathogenic CNVs (3.5%,
n = 5) were found in a total of 139 cases diagnosed with
DD/ID. When all pathogenic and likely pathogenic cases
were evaluated, the diagnosis rate was 17.1% (n = 24/139).
The diagnosis rates for pathogenic/likely pathogenic CNVs
in addition to DD/ID were as follows: i) 56.0% (n = 13) in
cases with facial dysmorphism findings; ii) 50.0% (n = 12)
in cases with congenital heart defects; iii) 45.8% (n = 11)
in cases with epilepsy; iv) 41.6% (n = 10) in cases with microcephaly;
v) 50.0% (n = 12) of cases with limb anomalies.
Of the 35 cases detected with CNVs, 16 had microcephaly,
15 had epilepsy, three had ASD, 14 had facial dysmorphism,
10 had short stature, two had congenital heart defect,
and 10 had structural brain anomaly. The demographic
and clinical findings and detailed neurological findings of
the patients are summarized in Tables 1 and 2, respectively. The aCGH analysis revealed pathogenic CNVs showing
clinical features in 19 (13.6%) of the total 139 cases.
The findings of karyotype analysis were normal in 29
(n = 29/35, 82.8%) of the 35 cases with abnormalities
detected by the aCGH analysis. Recurrent microdeletion/
micro-duplication syndrome was detected in eight of the 35
cases, whereas 11 had rare microdeletion/microduplication
syndrome. The karyotype analysis, aCGH analysis, inheritance
pattern of CNVs, and pathogenicity classification of
the patients are summarized in Table 1.
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