2q23.1 Microdeletion , Zohra Amarta Shah

Asia

04/05/2006 - 08/28/2022

Asia was adventurous. We called her our “X” girl because if she could go higher, faster, more extreme, she was thrilled. She loved amusement parks, riding horses, sporting events, and anything that gives a little rush of adrenaline. She loved going to the playground, parties, walking the mall, going to the pool, and taking rides in the car, train or bus. She loved going to school, playing with her special friends at school, and especially riding to and from home on the school bus. Asia will be deeply missed by the many people who loved her.

~Season, Asia’s Mom

2q23.1 Microdeletion
The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.

To date, fifteen patients have been reported.

Dysmorphic features include microcephaly, wide and open mouth, a tented upper lip, and prominent incisors. The majority of cases present with stereotypic repetitive behavior, a disturbed sleep pattern, and a broad-based gait. Skeletal abnormalities include generalized brachydactyly with small hands and feet.

Artist: Zohra Amarta Shah

Exposé par :

Beyond the Diagnosis

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