Table 1 Clinical presentation of patients affected by subtelomeric anomalies.
From: Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability
Case | Gender Age At The Diagnosis | Subtelomeric Anomaly | DD/ID Relevant neurologic impairment At diagnosis | Evolution of the neurologic phenotype At follow-up | Facial Dysmorphisms | Congenital Malformations | Growth | |
|---|---|---|---|---|---|---|---|---|
| Â | Â | Â | Â | Â | Â | Â | Prenatal | Postnatal |
1 | Female 4 y.o. | Deletion 1p36 46, XX, ish del 1p36 de novo | DD Partial seizures EEG: focal irritative complexes | Lost at follow-up | Frontal bossing, convergent strabismus, straight eyebrows, deep set eyes, low-set ears | none | Normal | Normal |
2 | Female 16 m.o. | Deletion 1p36 46, XX, ish del 1p36 de novo | DD – Nystagmus Generalized seizures EEG: right temporal spike and wave activity, multifocal temporal irritative complexes | Lost at follow-up | Straight eyebrows, deep set eyes, divergent strabismus | VSD and bicuspid aortic valve | Normal | Normal |
3 | Male 8 y.o. | Deletion 9q34 46, XY, ish del(9)(q34.3qter) de novo | Severe ID | Lost at follow up | Round face, low frontal hairline, hypertelorism, synophris. | Corpus callosum dysgenesis, stenosis of pulmonary valve, ASD, genitalia hypoplasia | Normal | Obesity |
4 | Male 7 m.o. | Trisomy 16q24.3, Monosomy 9q34 46, XY, ish der(9)t (9;16)(9pter-9q34.3::16q24.3-16qter) pat | DD | 3 y.o: severe DD, microcephaly | Hypertelorism, upslanting palpebral fissures, epicanthal folds, low-set ears, large and indented tip of the nose | Anterior diaphragmatic hernia Morgagni type, agenesis of corpus callosum, multiple skeletal anomalies | IUGR | Normal |
5 | Male 7 m.o. | Trisomy 16q24, Monosomy 20q13.3 46, XY, ish der (20) t(16;20)(q24;q13.3) pat | DD | 6 y.o: severe DD, aggressive and food seeking behaviour, microcephaly, | Hypertelorism, ptosis, upslanting palpebral fissures, strabismus, long philtrum, thin upper lip | Trigonocephaly, neonatal arthrogryposis, penis recurvation, severe hypospadias, bilateral cryptorchidism recurrent urinary tract infections. | Normal | Obesity |
6 | Male 1 y.o. | Trisomy 6p22.3, Monosoy 1q44 46, XY, ish der(6) t(6;1)(p22.3;q44)mat | DD | 8 y.o: normal motor development and borderline cognitive development | Bilateral ptosis, micrognathia, hypoplastic teeth, low-set ears | Complex craniosynostosis, hypoplastic corpus callosum, renal hypoplasia, progressive renal failure leading to renal transplantation | IUGR | Normal |
7 | Male 3 d.o. | Trisomy 12q 24.32, Monosomy 7q 34 46, XY, ish der(7) t(7;12)(q34;q24.32) mat | Hypotonia | 2 y. o.: severe DD, microcephaly | macrotia | Caudal regression, chorioretinal coloboma, VSD, intestinal malrotation with diaphragmatic hernia, hypospadia, bilateral cryptorchidism, skeletal abnormalities, congenital bilateral hip dislocation and congenital luxation of right rotula, clubfeet | IUGR | Microsomia |
8 | Female 2 d.o. | Trisomy 6q, Monosomy 6p 46, XX, ish der(6)(ptel-;qtel++) de novo | None | 7 m.o: mild motor delay 5 y.o: normal motor and cognitive development | Hypertelorism, epicanthal folds, short neck with pterigium | External ear malformation, posterior embriotoxon. | Normal | Normal |
9 | Female 6 d.o. | Trisomy 10q, Monosomy 5p 46, XX, ish der(5)t(5pter;10qter) de novo | Severe hypotonia | 2 y.o.: severe DD, microcephaly 3 y.o: severe DD, microcephaly | Flat facies, downslanting palpebral fissures, low-set ears | ASD, VSD, II- III-IV toes syndactyly, high-arched palate | IUGR | Normal |
10 | Male 7 y.o. | Trisomy 1p32.2, Monosomy 13q31.1 46, XY, ish t(1;13)(p32.2;q31.1) de novo | Mild ID, macrocephaly | Lost at follow up | Prominent forehead, deep set eyes, thick superior lip, prominent inferior lip | None | Normal | Normal |