| Demographic Data |
| Relation to Proband |
proband |
| Sex |
Female |
| |
| Data Elements |
| Clinical Element Type: 1p36 Deletion Syndrome |
| (Baseline) |
| Inheritance |
| De novo |
Unknown |
| If no, give parental origin |
Maternal |
| Maternal age at time of delivery |
30 |
| Paternal age at time of delivery |
35 |
| Rearrangement |
Interstitial |
| Deletion Size in Mb |
1.5 |
| Dysmorphic Features |
| Large anterior fontanelle |
No |
| Microcephaly |
No |
| Brachycephaly |
No |
| Low hairline |
Yes |
| Small ears |
No |
| Low-set ears |
Yes |
| Ear asymmetry |
No |
| Thickened ear helices |
Yes |
| Synophrys |
Yes |
| Deep-set eyes |
Yes |
| Hypertelorism |
No |
| Small palpebral fissures |
No |
| Upslanting palpebral fissures |
Yes |
| Downslanting palepebral fissures |
No |
| Midface hypoplasia |
Yes |
| Flat nasal bridge |
Yes |
| Pointed chin |
Yes |
| Clinodactyly |
Yes |
| Neurological |
| Mental retardation |
Yes |
| Developmental delay |
Yes |
| Speech delay |
Yes |
| Seizures |
No |
| Epileptic encephalopathy |
No |
| Hypotonia |
Yes |
| Feeding difficulties |
Yes |
| Oropharyngeal dysphasia |
Yes |
| Self-abusive behavior |
No |
| Cardiovascular |
| Cardiomyopathy |
Yes |
| Structural congenital heart defects |
Yes |
| Patent foramen ovale |
No |
| Patent ductus arteriosus |
No |
| Ventricular septal defects |
No |
| Atrial septal defect |
No |
| Ebstein anomaly |
No |
| Bicommisural aortic valve |
No |
| Ophthalmologic and Audiologic |
| Hypermetropia (farsightedness) |
No |
| Myopia |
No |
| Strabismus |
No |
| Visual inattentiveness |
No |
| Hearing problems |
Yes |
| Conductive hearing loss |
Yes |
| Sensorineural hearing loss |
Yes |
| Gastrointestinal |
| Constipation |
Yes |
| Reflux |
No |
| Ulcer |
No |
| Hiatal hernia |
No |
| Discomfort |
No |
| Endocrine |
| Thryroid function studies |
No |
| Pubertal changes |
No |
| MRI Abnormalities |
| Polymicrogyria |
No |
| Leukoencephalopathy |
No |
| Generalized atrophy |
No |
| Prominent ventricles |
No |
| Remarks |
Borderline low hairline; low-set ears; thickened ear helices; mild synophrys; mild deep-set eyes; upslanting palpebral fissures; midface hypoplasia; flat nasal bridge; pointed chin; clinodactyly; mental retardation; developmental delay; speech delay; hypotonia; initial feeding difficulties; initial oropharyngeal dysphasia; cardiomyopathy; structural congenital heart defects; hearing problems; conductive hearing loss; sensorineural hearing loss; history of ptosis |