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. 2020 Jul 15;10(7):451. doi: 10.3390/brainsci10070451

Table 1.

Karyotype/CGH-arrays, FISH analysis results and phenotypes reported in previous studies and in our patient. +, analysis performed; - analysis not performed; nr, data not reported.

Study Karyotype/CGH-Arrays FISH Phenotype
Fan et al. karyotype of 46,XY,add(8)(p23) 46,XY,der(8)(qter→q24.13::p21.3→p23.3::p23.3→qter) + Global developmental delay. Marked hypotonia, weak low cry. Bitemporal low set ears, upslanting palpable fissures, wide nasal bridge, right cleft lip, micrognathia, excess nuchal skin, hypoplastic and widely spaced nipples. Left testis in the inguinal canal. Atrial septal defect, membranous ventricular septal defect, patent ductus arteriosus with a parachute mitral valve. Right pelvic dysplastic kidney and left hydronephrosis. Partial agenesis of the corpus callosum, communicating hydrocephalus, Dandy Walker malformation, intramedullary cord defect.
Masuda et al. der(8) (qter→p23.1::p23.1→p12:) + Severe motor delay and mental impairment. Hypotonia. Prominent forehead, posteriorly angulated ears, broad nose with depressed nasal bridge, wide mouth, high-arched palate and downward slanting eyes. Tetralogy of Fallot (TOF). Agenesis of the corpus callosum.
Vermeesch et al. 46,XX,del(8)(p23.3) inv dup(8)(p21.1p23.2)/46,XX,del(8)(p21.1) + Delayed psychomotor development. Axial hypotonia. Upward slanting palpebral fissures, synophys, and left preauricular tag, low set thumbs with hypotrophic thenars, bilateral clinodactyly of the fifth fingers. Linear areas of depigmentation with bordering areas of hyperpigmentation on the lumbar and presacral region and on both legs. Feeding problems with gastro-esophageal reflux [8].
Ciccone et al. 46,XX,psu dic(8)(p23.2)/46,XX,del(8)(p23.1) + Severe mental impairment. Asymmetrical face with the left eye lower than the right, left palpebral ptosis, dental malocclusion, zygomatic arch hypoplasia, low set ears, and a short neck with webbing. Kyphoscoliosis, globous abdomen, short upper and lower limbs, premature grey hair.
Cooke et al. 46,XX,der(8)dir dup(8)(p21p23.1) del(8)(p23.1p- ter).ish der(8)dir dup(8)(p21p23.1)del(8)(p23.1pter) (wcp8þ,pter -) + Global developmental delays. No meaningful speech. Poor auditory attention, impulsiveness and decreased attention span. Upward slanting palpebral fissures, epicanthal folds, low columella with hypoplastic alae nasi, smooth philtrum, thin vermilion to the upper lip, high arched palate, bilateral clinodactyly. Partial complex seizures. Recurrent upper and lower respiratory tract infections. Mild degree of brain atrophy and evidence of a Dandy–Walker variant in the posterior fossa.
Caglayan et al. Del 8p23.1: 6.99 Mb;Dup 8p11.2→8p23.1: 31.51 Mb nr Severe cognitive delay. Microcephaly, frontal bossing, malformed ears, thin vermilion of upper lip, abnormal maxilla and mandible, strabismus, coloboma. Corpus callosum agenesis.
Buysse et al. 46,XY,der(8)(qter→q24.13::p21.3→p23.3::p23.3→qter) Del 8p23.1l: 6.9 Mb; Dup 8p22: 3.4 Mb;Dup 8qter→24.13: 20.9 Mb + Global developmental delay.
Hypertelorism, intermittent strabismus of the left eye, hetero-chromia iridis of the right eye, upslanting palpebral fissures, blue sclerae, slight retrognathia, ears posteriorly rotated with a preauricular tag on the left side. Intergluteal hairy dimple. Supravalvular pulmonary stenosis. Bilateral decreased vision with astigmatism and hypermetropia.
Hand et al. Del 8p23.1: 6.8 Mb;Mosaic Del 8p21.2: 1.7Mb; Mosaic Dup p21.2→p23.1:11Mb - Cognitive, speech and motor delays. Hypotonia. Bilateral single palmar creases, no clinodactyly. Skin pigmentary abnormalities (faint lines of hyperpigmentation on the backs of the both legs). No evidence of facial dysmorphisms. Cheerful disposition, eager to please.
Ergun et al. Del 8p23.1: 6.71 Mb;Dup 8p11.2!8p23.1: 29.26 Mb nr Absent nasal bone and clenched left hand. Enlarged thickened heart walls along with polyvalvular dysplasia. Dilatation of the main pulmonary artery and branches. History of necrotizing enterocolitis. Agenesis of the corpus callosum, enlarged third ventricle and cerebellar hypoplasia.
Fisch et al.
  1. arr 8p23.3p23.1(90,616-6,913,476)X1 dn,8p23.1p11.1(12,547,803–43,647,263)X2*3 dn,8p11.23p11.22(39,356,395– 39,505,456)X0

  2. arr 8p23.3p23.1(166,252–6,913,476)X1 dn,8p23.1p11.1(12,547,803–37,028,346)X2*3 dn, 8p11.23p11.22(39,356,395– 39,505,456)X1

  3. arr 8p23.1p21.3(8,117,071–22,366,537)X2*3 dn,8p11 .23p11.22(39,356,395–39,505,456)X0

  4. arr 8p23.3p23.1(166,252–6,913,476)X1 dn,8p23.1p21.3(12,511,655–21,726,774)X2*5 dn, 8p11 .23p11.22(39,356,395– 39,505,456)X0

nr
  1. Long face, wide open eyes. Lack of expressive speech and language. Mild-to-moderate autism. Hyperactivity, restlessness and impulsivity.

  2. Large head and prominent forehead. Lethargic, no eye contact. Extremely limited speech/language. Lower than adequate levels of adaptive behavior. Subclinical thought problems and significant anxious/withdrawn behaviors, psychosomatic problems and emotional lability.

  3. Severely developmentally and intellectually disabled. Lower than adequate levels of adaptive behavior. Severe autism. Severe thought, withdrawn, social problems.

  4. Mild intellectual deficits. Lower than adequate levels of adaptive behavior. ADHD. Thought and social problems.

Garcìa-Santiago et al.
  1. Del 8p23.1(330,897–6,420,809): 6.09 Mb; Dup 8p12-- > 8p21 (28,529,348–39,899,187): 11.37 Mb;mosaic dup 8p11.218q11 (41,348,847–48,885,448): 7.54 Mb; dup 8q24.3 (143,626,319–146,157,954): 2.53 Mb

  2. Del 8p23.1 (1–6,901,486): 6.90 Mb;Dup 8p12- > 8p23.1 (12,627,630–36,027,465): 23.40 Mb

  3. Del 8p23.1 (1–7,233,949): 7.3 Mb;Dup 8p12- > 8p23.1 (12,554,743–34,577,042): 22.03 Mb

  4. Del 8p23.1 (1–6,925,869): 6.94 Mb;Dup 8p11.1- > 8p23.1 (12,554,743–41,232,360): 28.76 Mb

  5. Del 8p23.1 (1–6,900,000): 6.90 Mb;Dup 8p12- > 8p23.1 (12,296,000–32,800,000): 20.5 Mb

  6. Del 8p23.1 (1–6,900,000): 6.90 Mb;Dup 8p11.2- > 8p23.1 (12,296,000–43,700,000): 31 Mb

  7. 46,XX,del(8)(p23.3) invdup(8) p21.1p23.2)

+
  1. Mild delayed Speech development. Attention deficit, hyperactivity disorder. Small pointed chin, wide nasal bridge and thick vermilion of the lower lip. Cutis marmorata. Asymmetry of lower limbs.

  2. Mild intellectual delay. Hypotonia. Prominent forehead, cupped simple ears, smooth philtrum. Bilateral fifth finger clinodactyly.

    Fronto-parietal brain atrophy.

  3. Moderate intellectual delay. Hypotonia. Protruding tongue in the absence of macroglossia. Patent Ductus Arteriosus (PDA). Brachydactyly. Thinning of the corpus callosum.

  4. Severe intellectual delay. Hypotonia. Macrocephaly, narrow and small forehead, facial asymmetry, micrognathia, ptosis, smooth filtrum, macroglossia, spaced teeth, narrow palate, tendency to open mouth and large ears. Corpus callosum agenesis. Valgus feet.

  5. Severe intellectual delay. Hypotonia. Brachycephaly, broad forehead with bitemporal narrowing, facial asymmetry, short palpebral fissures, straight and narrow nose, low-set, posteriorly rotated ears, and large mouth. Bilateral fifth fingers clinodactlyly. Ventricular septal defects (VSD). Corpus callosum agenesis.

  6. Mild to moderate Intellectual delay. Hypotonia. Protruding ears, straight nose with bulbous tip. High palate, thick vermilion of lips and micrognathia.

  7. Double outlet right ventricle (DORV), ventricular septal defects (VSD). Corpus callosum agenesis.

Knijnenburg et al. 46 XY + Moderate intellectual disability. Flat occiput, epicanthal folds, downturned corners of the mouth, broad based nose, broad hands with tapering fingers and mild 2-3 toe syndactyly. Atrial septal defect. Obesity. Occasionally aggressive outbursts.
Kumar et al. 6.7- Mb deletion on chromosome 8p23.3p23.1 and a 31-Mb interstitial duplication on chromosome 8p23.1p11.1. nr Global developmental delay. Generalized hypotonia. Broad forehead, low set ears, thick lips, prominent philtrum. Harrison sulcus. History of generalized seizures. Large doubly committed ventricular septal defect (VSD) with left to right shunt and severe hyperkinetic pulmonary artery hypertension. Colpocephaly with complete absence of corpus callosum, prominent ventricles.
Our patient 46, XX, der(8)del(8)(p23.1)invdup(p12p23.1) + Developmental and speech delay. No meaningful sentences. Hypotonia. Hypothyroidism. Prominent forehead, arched eyebrow, thin nose with rounded tip and anteverse nostrils, flat filter, thin down-turned lips, slight micrognathia, low-set posteriorly rotated ears. Single palmar crease on the right hand and bilateral IV-V fingers clinodactyly. Hypertrichosis, previous sacrococcygeal fistula sign. Extra-rotation of the lower limbs, varus position of both the knees, flat feet. Bilateral cutaneous dimples on both elbows and knees, shield chest, inverted nipples, winged shoulder blades. Emotiveness, impulsiveness, decreased attention span. Dilatation of lateral ventricles, pineal gland’s small ectasia, moderate cystic cisterna magna’s ectasia, retrocerebellar cystic ectasia. Global chorio-retinic dystrophia, pale papilla with clear boundaries, peri-papillar pigmentary ring. Sialorrhea and extravelic palatin tonsils, ogival palate, type C tympanogram with absent stapedial reflex on the left.