Monosomy 9p

Monosomy 9p
Synonyms	9p deletion syndrome, Alfi's syndrome
Pronounce	N/A
Specialty	N/A
Symptoms	Developmental delay, intellectual disability, congenital heart defects, craniofacial abnormalities
Complications	N/A
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Chromosomal deletion
Risks	Parental chromosomal rearrangements
Diagnosis	Karyotype, chromosomal microarray
Differential diagnosis	Trisomy 9p, Wolf-Hirschhorn syndrome
Prevention	N/A
Treatment	Supportive care, early intervention, special education
Medication	N/A
Prognosis	N/A
Frequency	1 in 50,000 births
Deaths	N/A

Monosomy 9p is a rare chromosomal disorder where a portion of the 9th chromosome is missing. This condition is characterized by mental retardation, growth deficiencies, distinctive facial features, and other physical abnormalities.

Symptoms and Signs

The symptoms of Monosomy 9p can vary greatly from one person to another. Some common symptoms include:

• Mental retardation
• Growth deficiencies
• Distinctive facial features such as a broad nasal bridge, low-set ears, and a thin upper lip
• Other physical abnormalities such as heart defects, kidney abnormalities, and skeletal anomalies

Causes

Monosomy 9p is caused by a deletion of genetic material from the short arm (p) of chromosome 9. The size and location of the deletion can vary, and this can influence the severity and type of symptoms a person experiences.

Diagnosis

Diagnosis of Monosomy 9p is typically made through a genetic test known as a karyotype. This test involves examining the chromosomes in a sample of blood or other body tissues.

Treatment

There is currently no cure for Monosomy 9p. Treatment is symptomatic and supportive, and may include physical therapy, special education, and other medical interventions as needed.

Prognosis

The prognosis for individuals with Monosomy 9p varies depending on the size and location of the chromosomal deletion, as well as the specific symptoms and complications that are present.

See also

• Chromosome 9
• Chromosomal deletion
• Genetic disorders

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