What are the facial features of DiGeorge syndrome?

In some cases people with DiGeorge syndrome have no symptoms at all. Sometimes they have distinctive facial features including hooded eyelids, cheek flatness, a prominent bulbous nasal tip, an underdeveloped chin, or ears that appear prominent with attached lobes. These features will vary from person to person.

What does 22q11 2 deletion syndrome look like?

A number of particular facial features may be present in some people with 22q11. 2 deletion syndrome. These may include small, low-set ears, short width of eye openings (palpebral fissures), hooded eyes, a relatively long face, an enlarged nose tip (bulbous), or a short or flattened groove in the upper lip.

Which deletion is the most common abnormality of patients with DiGeorge syndrome?

DiGeorge syndrome is typically due to the deletion of 30 to 40 genes in the middle of chromosome 22 at a location known as 22q11. 2. About 90% of cases occur due to a new mutation during early development, while 10% are inherited from a person’s parents.

How is 22q11 deletion syndrome diagnosed?

The diagnosis of 22q11. 2DS is suspected when clinical symptoms are present. The diagnosis is confirmed by a blood test that can detect a microscopic chromosomal deletion on chromosome 22.

How does 22q11 2 deletion syndrome happen?

22q11. 2 deletion syndrome is caused by a deletion of a small part of chromosome 22 near the middle of the chromosome at a location known as q11. 2. In most cases, the syndrome occurs for the first time in the affected person; about 10% of cases are inherited from a parent.

What are some of the common names associated with 22q11 2 deletion syndrome?

Other Names for This Condition

22q11.2DS.
Autosomal dominant Opitz G/BBB syndrome.
CATCH22.
Cayler cardiofacial syndrome.
Conotruncal anomaly face syndrome (CTAF)
Deletion 22q11.2 syndrome.
DiGeorge syndrome.
Sedlackova syndrome.

What are the effects of the 22q11 deletion syndrome?

The 22q11 deletion syndrome is associated with a spectrum of features, including congenital heart defects, palatal abnormalities, characteristic facial features, learning difficulties, and immune deficiency [ 2 ]. It has also been associated with an increased risk for major psychiatric disorders, particularly schizophrenia [ 3, 4 ].

How big can a 22q11 duplication be?

Most patients with 22q11 deletions or duplications have a common 3 megabase (Mb) deletion or a smaller, distal nested 1.5 Mb deletion [ 13 ].

Are there any patients with small chromosome 22q11.21?

A review of DECIPHER (DECIPHER, https://decipher.sanger.ac.uk/) on 5/19/2015 revealed a reported case (285769) of a similar duplication (22:18894835-19010508). However, a second sequence variant (1:187074685-248262713) is also reported and is classified as definitely pathogenic.

What are the facial features of DiGeorge syndrome? In some cases people with DiGeorge syndrome have no symptoms at all. Sometimes they have distinctive facial features including hooded eyelids, cheek flatness, a prominent bulbous nasal tip, an underdeveloped chin, or ears that appear prominent with attached lobes. These features will vary from person to person.…