Table 1

Clinical presentation of patients affected by subtelomeric anomalies.

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

Belligni et al. Italian Journal of Pediatrics 2009 35:9   doi:10.1186/1824-7288-35-9