What is 9p deletion syndrome?

The 9p deletion syndrome is characterized by trigonocephaly, moderate to severe mental retardation, low-set, malformed ears, and dysmorphic facial features, such as up-slanting palpebral fissures and a long philtrum.

What is 3p chromosome deletion?

3p deletion syndrome is a condition that results from a chromosomal change in which a small piece of chromosome 3 is deleted in each cell. The deletion occurs at the end of the short (p) arm of the chromosome.

Are there prenatal tests for monosomy 9p?

In some instances, Chromosome 9, Partial Monosomy 9p may be suggested before birth (prenatally) by specialized tests such as ultrasound, amniocentesis, and/or chorionic villus sampling (CVS).

What is Alfie syndrome?

Monosomy 9p (also known as Alfi’s Syndrome or simply 9P-) is a rare chromosomal disorder in which some DNA is missing or has been deleted on the short arm region, “p”, of one of the 9th Chromosomes (9p22. 2-p23). This deletion either happens de novo or a result of a parent having the chromosome abnormality.

What condition is caused by chromosomal deletion?

Examples of chromosomal deletion syndromes include 5p-Deletion (cri du chat syndrome), 4p-Deletion (Wolf-Hirschhorn syndrome), Prader–Willi syndrome, and Angelman syndrome.

What are the symptoms of monosomy 9p?

Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single …

How rare is Alfi’s syndrome?

Alfi’s syndrome is a rare chromosomal disorder that has only affected about 250 people in the entire world.

Is trisomy 9 Down syndrome?

Similar to trisomy 21 (also known as Down syndrome), trisomy 9 occurs when there are three copies (as opposed to the usual two) of chromosome 9 present in a fetus’s cells. Trisomy 9 is rarer than trisomy 21 and has more severe manifestations. It also has a much lower survival rate.

Can you look normal and have Down syndrome?

Misconception: People with Down syndrome all look alike. For example, many but not all people with Down syndrome have almond-shaped eyes and a short stature. However, like typical people who share similar features, they look more like their families than each other.

What is 9p deletion syndrome? The 9p deletion syndrome is characterized by trigonocephaly, moderate to severe mental retardation, low-set, malformed ears, and dysmorphic facial features, such as up-slanting palpebral fissures and a long philtrum. What is 3p chromosome deletion? 3p deletion syndrome is a condition that results from a chromosomal change in which a small…