Chromosome 9q Deletion in Bands 31.2-33.1 (No Medical Name as of yet)
From WikiGenetics
Findings/Symptoms in a -9q case: 46,XY,del(9)(q31.2q33.1)
- From WikiGenetics
- Birth weight in 3rd percentile
- Developmental Venous Anomaly
- Systolic Ejection Murmur - (1/4)
- Microcephaly -(Persistent)
- Perivascular spaces in both Cerebral Hemispheres - (Most pronounced in the Parietal Lobes)
- Pituitary Gland at the lower limits of normal (PG Functioning Test recommended)
- Hypotonic
- Hypoplasia of toe nails
- Clinodactyly of 5th fingers
- Simian Crease on the right
- Born with Oblique Talus, both feet
- Long standing Serous Otitis Media, on second set of tubes, both ears
- Serious Constipation
- Chronic GO Reflux
- Short Palperbral Fissures
- Prominent nose with broad nasal bridge
- Short Filtrum with thin upper lip
- Relatively small wide spaced teeth
- Prominent chin
- Posteriorly rotated ears
- High-arched palate
- Global Developmental Delay
- Autism Spectrum Disorder
- Communication Disorder
- Speech & Language Disorder
- Articulation Disorder
- Behavioral Syndrom (s)
- Hyperactive
NEEDS/Therapy:
- Assistive Technology, Visual Supports & Sensory Equipment.
- Speech Therapy, Articulation Services, Developmental Adapted Physical Ed., DAPE Services, Occupational Therapy, Physical Therapy, Nursing Services (In school 2x/mo. TYMPS conducted), Early Childhood Special Education Intervention - 5x/week (IEP, IIIP - ISP), Case Management, DD Social Worker, PCA Services (Requires total personal care and Intense Supervision - Home & Community), Special Diet, SSI & Several Specialty Doctors. (Additions will be added often if nessesary)
* Written by/affiliation(s): * Chris Leonzal * Child's Mother * US-MN Local Contact/Rep with "Unique! Rare Chromosome Disorder Support Group" * CONTACT IS WELCOME Email- cmloaks@aol.com
--Chris 13:30, 5 September 2007 (EDT)
