Some of the cases present associated microphthalmia [ 87 ], and/or microcornea [ 88, 92, 95 - 97 ].[molvis.org]
Chromosome 6p deletion can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. [1] Treatment is based on the signs and symptoms present in each person. Last updated: 8/5/2015[rarediseases.info.nih.gov]
The present report describes a new instance of a partial deletion, namely that of the short arm of a C chromosome, probably a 6 (?6p— aberration).[jamanetwork.com]
In the present study, we could not find a correlation of 1p alterations with metastases‐free survival in patients with monosomy 3. However, this might be due to the relatively small study size.[onlinelibrary.wiley.com]
Females with Turner syndrome exhibit certain physical characteristics at birth and in childhood, including: swollen hands and feet (in infants) short stature a high palate low-setears obesity droopy eyelids flat feet Females with this condition may also[healthline.com]
Other possible problems include: Middle ear infections Diabetes Dry skin High blood pressure Low bone density and increased risk of fractures Curving of the spine (scoliosis and kyphosis) Hearing loss Hypothyroidism Celiac disease Inflammatory bowel disease[urmc.rochester.edu]
Girls with TS often have: Puffy hands and feet at birth Wideneck with folds of skin down the sides of neck (webbed neck) Short height A low hairline at the back of the neck Feeding problems as a baby Small differences in the shape and position of the[urmc.rochester.edu]
Features that often occur in people with chromosome 6p deletion include developmental delay, intellectual disability, behavioralproblems, and distinctive facial features.[rarediseases.info.nih.gov]
At the visit, write down the name of a new diagnosis, and any new medicines, treatments, or tests. Also write down any new instructions your provider gives you for your child.[urmc.rochester.edu]
Chromosome 6p deletion can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. [1] Treatment is based on the signs and symptoms present in each person. Last updated: 8/5/2015[rarediseases.info.nih.gov]
There is no cure, but there are treatments that can ease your symptoms and improve your quality of life. Growth hormone injections may help children with Turner syndrome grow taller.[healthline.com]
We excluded storage disorders such as mucopolysaccharidosis type IV, which can present from birth in the form of CCO, along with all other metabolic causes and storage disorders, as etiologically distinct.[molvis.org]
Experts don’t know how to prevent the chromosome error that causes TS. It often happens by chance during conception. It does not often run in families.[urmc.rochester.edu]
There is no way to prevent Turner syndrome, and the cause of the genetic abnormality is unknown.[healthline.com]
This confusion may prevent useful genotype-phenotype correlations from being identified and the true nature of this spectrum of diseases and associated genes from being revealed.[molvis.org]