Table 1.
The size of deletion, karyotype and clinical features of five previously published cases with the 3q36.33‐3q27.2 microdeletion and our case is given in detail in this table
| Patient 1 2 | Patient 2 2 | Patient 3 2 | 3 | 4 | Our case | Summary | |
|---|---|---|---|---|---|---|---|
| Size of deletion | 4.14 Mb | 4.28 Mb | 2.09 Mb | 1.99 Mb | 5 Mb | 8.4 Mb | |
| Karyotype | arr [hg19] 3q26.33q.27.2 (181,648,378–185,786,898)x1 | arr [hg19] 3q26.33q.27.2 (181,692,255–185,969,168)x1 | arr [hg19] 3q27.1q.27.2 (183,047,473–185,140,522)x1 | arr [hg18] 3q26.33q27.1 (183,953,210–185,952,002)x1, Xp22.33Xq28 (0–154,913,754)x2 | arr [hg19] 3q26.33q.27.5 (182,189,525–187,212,935)x1 | arr [hg19] 3q26.33q28 (182,674,821–191,025,402)x1 | |
| Age at last examination | 6 years | 17 years | 12 years | 9.5 years | 16 years | 16 years | |
| Intrauterine growth retardation | + | + | + | + | + | + | 6/6 |
| Feeding problems | + | + | + | − | + | + | 5/6 |
| Short stature | + (−3.68 SD) | + (−4 SD) | + (−2 SD) | + (≪3rd centile) | ± (−1.35 SD) | ± (−1.5 SD) | 6/6 |
| Microcephaly | + (−4.4 SD) | − | − | + (48 cm, 7y) | + (−5.93 SD) | + (−2 SD) | 4/6 |
| Flat facial profile | + | + | + | + | − | + | 5/6 |
| Medially sparse eyebrows | + | + | + | + | + | + | 6/6 |
| Epicanthal folds | + | + | + | − | − | + | 4/6 |
| Blepharophimosis/short palpebral fissures | − | − | + Narrow horizontal opening | − Puffy eyelids | + | + | 3/6 |
| Flat nasal bridge and tip | + | + | + | − | − | + | 4/6 |
| Anteverted nares | + | − | − | − | − | − | 1/6 |
| Short philtrum | + | + | + (flat) | − (flat) | + | − | 4/6 |
| Downturned corners of mouth | + | + | − | − | + | + | 4/6 |
| Eye abnormalities | Myopia/astigmatism | Bilateral keratoconus | Myopia/astigmatism | − | − | − | 3/6 |
| Teeth abnormalities | Incomplete dentition | Primary dentition at 15 years of age | Pointed, wide spared, fused | Dental crowding, delayed teeth eruption | Poor dentition, delayed teeth eruption | Peg‐like, irregular and with dysplastic enamel | 6/6 |
| Ears abnormalities | Preauricular pit | − | Mildly simple and thickened | − | − | Low‐set dysplastic | 3/6 |
| Hearing loss | − | Mild conductive hearing loss | Decreased hearing secondary to fluid | − | Moderate to severe sensorineural hearing loss | Sensorineural hearing loss) | 4/6 |
| Thin skin | + | + | − | − | + | − | 3/6 |
| Hands abnormalities | Clinodactyly of F4 | − | Mildly tapered fingers | − | Clinodactyly of F5 | − | 3/6 |
| Feet abnormalities | Pes planus | Pes planus | Mild pes planus | − | Pes planus | Club foot | 5/6 |
| Skeletal | Mild kyphosis, mild pectus carinatum | − | Hypermobility of the hips | − | − | Thoracal kyphosis | 3/6 |
| Heart anomaly | Patent ductus arteriosus) | − | − | − | − | Supravalvular aortic and pulmonary stenosis) | 2/6 |
| Genitalia/puberty | Retractable left testicle | Undescended testis, micropenis, delayed puberty | Hypoplasia labia minora and pubic pad | − | − | Delayed puberty | 4/6 |
| Delayed milestones | + | + | + | + | + | + | 6/6 |
| Speech delay | Not acquired | − | − | Delay | Delay | Dysarthric | 4/6 |
| Intellectual disability | Severe | Severe | Borderline | + | + | Mild | 6/6 |
| Behavioral abnormalities | − | Hyperactivity | Attention deficit disorder | Asperger syndrome | − | Tics and nail biting | 4/6 |
| Recurrent infections | + | + | + | + | − | − | 4/6 |
| Hypotonia | + | + | + | + | + | + | 6/6 |
| Other abnormalities | Thrombocytopenia | − | Thrombocytopenia | Thrombocytopenia, neutropenia | Tonic‐clonic seizures | − |