Array-Based Comparative Genomic Hybridization Analysis in Children with Developmental Delay/Intellectual Disability
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05 juin 2022
À propos de cet article
Catégorie d'article: Original Article
Publié en ligne: 05 juin 2022
Pages: 15 - 24
DOI: https://doi.org/10.2478/bjmg-2021-0020
Mots clés
© 2021 A Türkyılmaz et al., published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
Clinical and genetic features of the patients_
| 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)×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) |
8p24.3p23.1 (158,048–10,161,482)×1 |
10,003 |
| 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) |
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) |
3p26.3p26.1 (61,891–5,528,884)×1 |
5467 |
| 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) |
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) |
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_
| 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 | – |