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

Array-Based Comparative Genomic Hybridization Analysis in Children with Developmental Delay/Intellectual Disability

Balkan Journal of Medical Genetics

Volume 24 (2021): Issue 2 (November 2021)

By:

A Türkyılmaz, BB Geckinli, E Tekin, EA Ates, O Yarali, AH Cebi and A Arman

Open Access

|Jun 2022

Figures & Tables

Clinical and genetic features of the patients_

#	Sex-Age	Clinical Features	Karyotype	aCGH Results	Size (kb)
1	M-4	DD, hypotonia, short stature, microcephaly, micrognathia, small mouth, proximally placed thumb, fifth finger clinodactyly, broad forehead, strabismus, uplanting palpebral fissures, scoliosis	46,XY	1721.32q21.33 (47,346,528–48,900,875)×3	1554
2	M-6	DD, epilepsy, uncal dysplasia	46,XY	Xp11.23 (48,888,996–49,401,262)×2Xq21.31q21.32 (91,579,532–92,176,985)×2	512
3	M-1	DD, IUGR, short stature failure to thrive, microcephaly, round face, low-set ears, epicanthus, hypotonia, cat-like cry	46,XY	5p15.33p15.2 (113,576–14,739,104)×1	14,625
4	M-6	DD, VSD, curly eyelashes, thin upper lip, prominent methopic suture, synophrys, triangular face, large ears, epilepsy	46,XY	8q24.21q24.3 (130,459,411–140,444,375)×1	9985
5	F-5	DD, epilepsy	46.XX.der(8)t(8,9)(p23.1; p23)	8p24.3p23.1 (158,048–10,161,482)×19p24.3p23 (203,861–13,947,653)×2	10,00313,744
6	F-3	DD, short stature, failure to thrive, hypotonia, large ears, depressed nasal bridge, thin upper lip, epilepsy	46,XX	2q12.2q12.3 (106,925,594–188,257,773)×3	50,379
7	F-3	DD, bifid thumb, microcephaly, strabismus, broad nasal tip, depressed nasal bridge, telecanthus, short neck, low-set ears, epilepsy	46,XX,dup(4)(q28.2q35.1	4q28.2q35.1 (137,877,879–188,257,773)×3	50,379
8	F-1	DD, microcephaly, short stature, IUGR, prominent glabella, short philtrum, strasbismus, hypertelorism, epicanthus, epilepsy	46,XX	4p16.3 (68,345–1,881,435)×1	1800
9	F-4	DD, short stature, micrognathia, low-set ears, hyperterlorism, short philtrum, hypocalcemia	46,XX	23q11.21 (18,894,820–20,311,733)×1	1416
10	M-1	DD, microcephaly, hypertonicity, epilepsy	46,XY,der(3)(p25;q25)pat	3p26.3p26.1 (61,891–5,528,884)×13q25.32q29 (156,235,115–197,851,986)×3	546741,617
11	F-1	DD, hypotonia, iris coloboma	46,XX	15q13.1q13.3 (29,013,163–32,915,723)×1	3900
12	F-4	DD, epilepsy, ataxia, broad nasal tip	46,XX	6q21q23.31 (114,502,807–121,158,975)×1	6656
13	F-1	DD, hypotonia, brachycephaly, long eyelashes, small philtrum, telecanthus, pectus excavatum	46,XX	Xp22.2 (11,279,310–12,016,067)×4	737
14	M-10	DD, epilepsy	46,XY	9q13q21.11 (68,240,211–70,984,588)×1	2744
15	M-3	DD, sensorineural hearing loss, ptosis, microcephaly	46,XY	9p24.3 (204,193–500,584)×3	296
16	F-10	DD, ASD, microcephaly, hypertonicity, self mutilation, optic atrophy, EEG abnormality	46,XX	16p12.2 (21,601,714–21,816,543)×1	215
17	F-8	DD, epilepsy, hypertonicity, hydrocephaly, obesity, short stature	46,XX	3p12 (44,626,845–45,983,652)×1	1357
18	F-10	DD, webbed neck, epilepsy, tall stature	46,X,der(X)	Xp22.2p21.3 (14,036,105026,666,672)×3	126
19	M-6	DD, ADHD, VSD, epilepsy, hypotonia, microcephaly	46,XY	Yp11.32q11.223 (118,546–25,415,912)×2	25,287
20	F-7	DD, pachygyria, lissencephaly, microcephaly, hypertonicity, epilepsy	46,XX	8q24.23 (137,278,410–138,539,014)×3	1261
21	M-4	DD, microcephaly, epilepsy, hypertonicity, macrodontia, optic atrophy, limb contractures	46,XY	16p13.11p12.3 (16,295,900–16,873,547)×1	578
22	F-3	DD, microcephaly	46,XX	14q32.33 (106,505,480–107,285,437)×1	780
23	F-2	DD, ASD, microcephaly, epilepsy, cone dystrophy	46,XX	8p1.21p11.1 (42,908,376–43,822,214)×3	914
24	F-1	DD, microcephaly, short stature, failure to thrive, prominent metopic suture, synophrys, asymetric head shape, triangular and asymetric face, telecanthus, epicanthal folds, down-slanting palpebral fissures, microphthalmia of the left eye, anteverted nares, smooth and tented philtrum, microretrognathia, low-set ears, auricular pits, high-arched palate, thin upper lip and hypotonia	46,XX,der(16)(q24)	16q121q23.5 (52,459,169–82,285,105)×3	29,800
25	F-2	DD, microcephaly, short stature, low-set ears, convex nasal ridge	46,XX	3p14.2 (60,681,991–61,207,077)×1	520
26	F-14	ID, obesity, behavioral problems	46,XX	8p21.3 (21,157,621–22,987,837)×3	1800
27	M-12	ID, impaired social interactions	46,XY	15q13.3 (31,999,631–32,914,239)×3	446
28	M-3	DD, epilepsy	46,XY	16p13.1 (14,866,283–16,391,910)×1	1500
29	F-7	ID, ASD, short stature, hand stereotypies	46,XX	14q32.2q32.33 (97,377,993–107,282,437)×3	9904
30	F-4	DD, epilepsy	46,XX	20p13 (2,911,855–4,931,592)×3	2020
31	M-14	ID, IUGR, hypotonia, microcephaly, short stature, low-set ears, small mouth, prominent forehead, hypertelorism	46,XY	19p13.3 (2,572,666–4,192,224)×3	1619
32	M-25	ID, diabetes mellitus, renal cysts, obesity, stereotyped movements	46,XY	15q11.2q13.1 (23,164,31–28,530,182)×3	5365
33	F-4	DD, epilepsy, microcephaly, micrognathia	46,XX	4q34.2q34.3 (177,322,096–180,306,130)×3	2984
34	M-14	DD, synophrys, thin upper lip, short fingernails	46,XY,der(10)t(10;13)(p15; p11)	10p15.3p15.1 (135,608–6,054,675)×1	5919
35	M-12	DD/ID, microcephaly, cerebral atrophy, synophrys, flat philtrum, 2-3-4-5 toe syndactyly	46,XY	2q31.1q31.3 (170,694,601–182,623,003)×1	11,900

Detailed neurological findings of the patients_

#	Sex-Age	Epilepsy	Electroencephalogram	Brain Magnetic Resonance Imaging	Anti Epileptic Therapy Response
1	M-4	–	normal	normal	–
2	M-6	focal temporal lobe epilepsy started at the age of 5 months	left temporal discharges	left temporal uncal dysplasia	seizures controlled with the use of multi anti epileptic drugs
3	M-1	–	slowing of background activity	midbrain and pontine hypoplasia with enlargement of lateral ventricles	–
4	M-6	absence of seizures at the of 3 years	generalized SWDs maximally located at the post regions triggered with hyperventilation	normal	seizures controlled with the use of multi anti epileptic drugs
5	F-5	head drop seizures started at the age of 3 years	SWDs located on bilateral central regions	normal	seizures controlled with the use of multi anti epileptic drugs
6	F-3	focal motor seizures started at the age of 5 months	SWDs located on cetro-temporal regions	normal	seizures controlled with the use of multi anti epileptic drugs
7	F-3	focal motor seizures started at the age of 3 months	SWDs located on frontotemporal discharge	normal	seizures controlled with the use of multi anti epileptic drugs
8	F-1	focal motor seizures started at the age of 5 months	multifocal epileptic discharges with normal background activity	normal	seizures controlled with the use of multi anti epileptic drugs
9	F-4	–	normal	normal	–
10	M-1	focal motor seizures started at the age of 7 months	SWDs located on frontotemporal discharge	normal	seizures controlled with the use of multi anti epileptic drugs
11	F-1	–	normal	normal	–
12	F-4	myoclonic asthatic seizures started at the age of 3 years	3.0–3.5 hz generalized SWDs	normal	seizures controlled with the use of multi anti epileptic drugs
13	F-1	–	difuse slowing of the background activity without epileptic activity	cerebral and white matter atrophy	–
14	M-10	migratuar clonic seizures started as newborn	hypsarrhythmia	cerebral and white matter atrophy with enlargement of lateral ventricles	seizures controlled with the use of multi anti epileptic drugs
15	M-3	–	normal	normal	–
16	F-10	–	difuse slowing of the background activity without epileptic activity	cerebral and white matter atrophy with enlargement of lateral ventricles	–
17	F-8	focal hypomotor seizures started at the age of 5 months	SWDs located on temporoparietal and occipital regions	cerebral and white matter atrophy with enlargment of lateral ventricle and hydrocephalus	seizures controlled with the use of multi anti epileptic drugs
18	F-10	absence seizures started at the age of 4 years	3.0–3.5 hz generalized SWDs	normal	seizures controlled with the use of multi anti epileptic drugs
19	M-6	secondary generalized seizures and status epilepticus started at the age of 6 months	multifocal epileptic discharges with normal background activity	normal	seizures controlled with the use of multi anti epileptic drugs
20	F-7	multiple types of seizures started at the age of 18 months	multifocal epileptic discharges with slowing of background activity	Type 1 tip1 pachygyria, lis-sencephaly, nodular heterotropy	seizures were resistant to anti epileptic therapy
21	M-4	infantile spasm seizures started at the age of 4 months	hypsarrythmia	bilateral gliosis on the occipital regions	seizures were controlled with ACTH therapy
22	F-3	–	normal	normal	–
23	F-2	infantile spasm seizures started at the age of 4 months	multifocal epileptic discharges with slowing of background activity	bilateral gliosis on the occipital regions and enlargement of lateral ventricles	seizures were resistant to anti epileptic therapy
24	F-1	–	normal	normal	–
25	F-2	–	normal	normal	–
26	F-14	–	normal	normal	–
27	M-12	–	normal	normal	–
28	M-3	febrile seizures started at the age of 12 months and restarted at the age of 2 years	normal	normal	seizures were controlled with the use of a single anti epileptic drug
29	F-7	–	normal	normal	–
30	F-4	myoclonic seizures started at the age of 18 months	generalized polyspike waves	normal	seizures were controlled with the use of multi anti epileptic drug
31	M-14	–	normal	normal	–
32	M-25	–	normal	normal	–
33	F-4		generalized polyspike waves	normal	seizures were controlled with ACTH therapy
34	M-14	–	normal	normal	–
35	M-12	–	normal	cerebral atrophy	–

DOI: https://doi.org/10.2478/bjmg-2021-0020 | Journal eISSN: 2199-5761

Journal RSS Feed

Language: English

Page range: 15 - 24

Published on: Jun 5, 2022

Published by: Macedonian Academy of Sciences and Arts

In partnership with: Paradigm Publishing Services

Publication frequency: 2 issues per year

Keywords:

Array-based comparative genomic hybridization (aCGH),

Copy number variations (CNV),

Developmental delay,

Dysmorphic facial features,

Genotype-phenotype correlation,

Intellectual disability

Related subjects:

Medicine,

Basic medical science,

Basic medical science, other

© 2022 A Türkyılmaz, BB Geckinli, E Tekin, EA Ates, O Yarali, AH Cebi, A Arman, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

Previous article Volume 24 (2021): Issue 2 (November 2021)Next article