Table 1.
A summary of the main cardiac (CHD, NCLV/CMP, and aortic involvement) and multisystemic features in our cohort of nine patients with 1p36 deletion syndrome.
| P1 | P2 | P3 | P4 | P5 | P6 | P7 | P8 | P9 | |
|---|---|---|---|---|---|---|---|---|---|
| Molecular genotype (hg19) | 1p36.33p36.23(757,093–7,982,351)x1dn(7.2Mb),4q21.21q21.22(82,299,006–82,543,148)x3 pat(244Kb) | 1p36.33p36.31(82154_6923634)x1(6.8Mb) | 1p36.33p36.32(564424_4128574)x1dn(3.5Mb),Xp22.33p22.32(61091_5028407)x3 dn(4.9Mb) | 1p36.33(82154_1258246)x1dn(1.2Mb), 1p36.33(1497824_2071340)x1dn(574Kb), 4p14(38857310_39367654)x3mat(510Kb) |
1p36.33p36.32(82154_3441264)x1dn(3.4Mb) | 1p36.33p36.22(82154_9600774)x1dn(9.5Mb) |
1p36.33(82154_2098512)x1dn(2Mb) | 1p36.33p36.32(82154_4418164)x1dn(4.3Mb) | 1p36.33p36.31(82154_5514194)x1dn(5.4Mb), 2p23.1(30670973_31204981)x3 pat(534Kb) |
| Age at diagnosis/follow-up duration | 3.6m/5.5ys | 4.11m/22ds | 11.2ys/1.3ys | 5.10ys/1y | 8.17m/4m | 3.22m/1.6ys | 5.2ys/- | 4.2ys/1.7ys | 4m/1.2ys |
| CHD | ASD | HLHS, Mitro-aortic hypoplasia, VSD, CoAo | Ebstein anomaly with TR, Mild MR and TR |
No | ASD | ASD, VSD, PDA surgically repaired | No | No | ASD-OP, mild TR |
| CMP / NCLV | NCLV, EF 45% |
No | NCLV, EF 50% |
No, EF 67% | NCLV, severe DCMP EF 15% |
NCLV, EF 65% |
No | Mild LVH | NCLV, EF 45%, mild LVH |
| Aortic dilatation | Normal | Normal | Normal | Normal | Normal | Dilated aortic root, (Z-score 5), and ascending aorta (Z-score 2.9) In losartan therapy |
Normal | Dilated aortic root (Z-score 2.5) and ascending tract with mild AR. Lost in F-UP | Dilated ascending aorta (Z-score 2.1); in ACEI and beta-blocker therapy |
| Growth delay | Yes | Yes | No | No, obesity | Lower normal limit | Yes | No | No | Lower limits |
| Epilepsy | Yes, Symptomatic Focal | No | Yes | No | No | Yes | No | Yes, West Syndrome | Yes, Focal |
| ID | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes |
| Brain imaging | SEH | Cystic formations | Unknown | Unknown | Normal | Polymicrogyria | Unknown | Multiple periventricular heterotopic nodules | Polymicrogyria |
| Deafness | Bilateral asymmetric sensorineural | Unknown | No | No | No | Bilateral sensorineural | No | No | Bilateral sensorineural |
| Vision | Normal | Normal | Normal | Normal | Normal | Normal | Normal | Oscillatory nystagmus, dacryostenosis | Normal |
| Abdominal US | Bilateral renal pelvic dilatation | Monolateral renal pelvic dilatation | Hepatic steatosis | Unknown | Bilateral renal pelvic dilatation | Normal | Normal | Unknown | Gallbladder stones, dilated renal pelvis |
| Other malformations | Sacrococygeal fistula | Monolateral choanal stenosis | No | No | No | No | Phimosis | No | Normal |
| Other anomalies | Intermittent hypoglycaemia, abnormal thyroid tests | No | Scoliosis, lordosis | No | No | Chronic respiratory failure, feeding difficulties (PEG) |
Allergies | No | Normal |
| Dysmorphisms | Marbled skin, very wide AF, splanchnocranial disproportion, upslanting palpebral fissures, sunken eyes, pointed nose, triangular chin, thin lips, triangular face, long fingers and toes, rocker bottom feet |
Very large AF, bitemporal narrowing, prominent eyes, apparent hypertrophy of the inner side of the lip, long face, long fingers, irregular and deep dermatoglyphics |
Hypotelorism, arched, eyebrows, prominent nostrils, high arched palat, thick lips, short neck, joint stiffness, long and tapered fingers, scoliosis, kyphosis, prominent abdomen and hepatomegaly, flat feet |
Hypotelorism, upslanting palpebral fissures, high arched palate, short philtrum |
Anomalous distribution of the masses in the axillary area (irregular folds), AF slightly broad, prominent frontal bulges, sunken orbits, short nose, broad tip, small lips with downward angles, high arched palate, small low-set ears, bilaterally hands showed a peculiar aspect of transverse “line” in the terminal part of the metacarpals, appearance of skin syndactyly at the base of the fingers |
Relative macrocephaly, turricephaly, AF >> 3x3cm, frontal bossing, thin palpebral fissures, short nose with flattened root, prominent columella, thin upper lip, dysmorphic appearance of the palate, gingival hypertrophy, right “crumpld ear”, short neck, narrow chest, left hand single palmar crease, rectus diastasis, small umbilical hernia, moderate left inguinal hernia, limbs showed fixed contractures of the flexors of the knees and the feet with a club feet appearance |
Hypotelorismo, deep set eyes, angles of the mouth downturned | Depressed nasal bridge and of the frontal orbital tract, hypotonia, ligamentous laxity | Flat facies, depressed nasal root, puffy eye appearance, posterior cleft palate, micrognathia, dysmorphic auricles |
Abbreviations: AF, anterior fontanel; AR, aortic regurgitation; ASD, atrial septal defect; CHD, congenital heart defect; CMP, cardiomyopathy; CoAo, Coarctation of the aorta; DCMP, dilated cardiomyopathy; EF, ejection fraction; NCVL, noncompaction of left ventricle; HLHS, hypoplastic left heart syndrome; ID, intellectual disability; LVH, left ventricular hypertrophy; MR, mitral regurgitation, OP, ostium primum; PDA, patent ductus arteriosus; PEG; Percutaneous endoscopic gastrostomy; SHE, sub-ependymal haemorrhage; TR, tricuspid regurgitation; US, ultrasound; VSD, ventricular septal defect.