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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
        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