(no data available) External references: 1 OMIM reference - No MeSH references External references: 1 OMIM reference - No MeSH references 17q11.2 microduplication syndrome Very frequent - Total / partial trisomy / duplication Frequent - Alopecia - Enamel [csbg.cnb.csic.es]

Impairment Sample DNA My Products My Coffalyser.Net My Profile Login Application: Region: Item no. [mlpa.com]

eyebrows - Bifid tip / cleft nose / supernumerary nose - Flared / thick ala nasi - Flat cheek bones / malar hypoplasia - Long midface - Macroorchidism / macrotestes - Nasal septum deviation - Seizures / epilepsy / absences / spasms / status epilepticus [csbg.cnb.csic.es]

tip / cleft nose / supernumerary nose - Flared / thick ala nasi - Flat cheek bones / malar hypoplasia - Long midface - Macroorchidism / macrotestes - Nasal septum deviation - Seizures / epilepsy / absences / spasms / status epilepticus - Speech troubles [csbg.cnb.csic.es]

[…] cleft nose / supernumerary nose - Flared / thick ala nasi - Flat cheek bones / malar hypoplasia - Long midface - Macroorchidism / macrotestes - Nasal septum deviation - Seizures / epilepsy / absences / spasms / status epilepticus - Speech troubles / aphasia [csbg.cnb.csic.es]

/ supernumerary nose - Flared / thick ala nasi - Flat cheek bones / malar hypoplasia - Long midface - Macroorchidism / macrotestes - Nasal septum deviation - Seizures / epilepsy / absences / spasms / status epilepticus - Speech troubles / aphasia / dysphasia [csbg.cnb.csic.es]

The patient #287702 carried a de novo deletion of 17q11.2 (chr17:27837697-28120076) and a maternally inherited duplication of 15q13.3, and showed dysphasia, poor motor coordination and specific learning disability. [molecularcytogenetics.biomedcentral.com]

[…] supernumerary nose - Flared / thick ala nasi - Flat cheek bones / malar hypoplasia - Long midface - Macroorchidism / macrotestes - Nasal septum deviation - Seizures / epilepsy / absences / spasms / status epilepticus - Speech troubles / aphasia / dysphasia / echolalia [csbg.cnb.csic.es]

Key Features: Provides thorough information on understanding functional neuroanatomy and development, and on using functional neuroimaging Highlights clinical practice issues, such as legal and ethical decision-making, dealing with child abuse and neglect [books.google.de]

Normal at last evaluation Low set ears Whole Spin X‐ray: Inferior peaking of upper lumbar vertebrae Broad forehead CT Brain: Normal Down‐slanting palpebral fissures Depressed nasal bridge NS‐like phenotype Kyphosis Webbed neck Hypertelorism Short stature [onlinelibrary.wiley.com]