• Journal of Genetic Medicine
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• 제18권2호
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• pp.110-116
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• 2021

Microdeletions of chromosome 22q11.2 are one of the most common microdeletions occurring in humans, and is known to be associated with a wide range of highly variable features. These deletions occur within a cluster of low copy repeats (LCRs) in 22q11.2, referred to as LCR22 A-H. DiGeorge (DGS)/velocardiofacial syndrome is the most prevalent form of a 22q11.2 deletions, caused by mainly proximal deletions between LCR22 A and D. As deletions of distal portion to the DGS deleted regions has been extensively studied, the recurrent distal 22q11.2 microdeletions distinct from DGS has been suggested as several clinical entities according to the various in size and position of the deletions on LCRs. We report a case of long-term follow-up of a female diagnosed with a 22q11.2 distal deletion syndrome, identified a deletion of 1.9 Mb at 22q11.21q11.23 (chr22: 21,798,906-23,653,963) using single nucleotide polymorphism array. This region was categorized as distal deletion type of 22q11.2, involving LCR22 D-F. She was born as a preterm, low birth weight to healthy non-consanguineous Korean parents. She showed developmental delay, growth retardation, dysmorphic facial features, and mild skeletal deformities. The patient underwent a growth hormone administration due to growth impairment without catch-up growth. While a height gain was noted, she had become overweight and was subsequently diagnosed with pre-diabetes. Our case could help broaden the genetic and clinical spectrum of 22q11.2 distal deletions.

• Archives of Plastic Surgery
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• 제41권4호
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• pp.344-349
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• 2014

Background An abnormally obtuse cranial base angle, also known as platybasia, is a common finding in patients with 22q11.2 deletion syndrome (22q11DS). Platybasia increases the depth of the velopharynx and is therefore postulated to contribute to velopharyngeal dysfunction. Our objective was to determine the clinical significance of platybasia in 22q11DS by exploring the relationship between cranial base angles and speech resonance. Methods In this retrospective chart review at a tertiary hospital, 24 children (age, 4.0-13.1 years) with 22q11.2DS underwent speech assessments and lateral cephalograms, which allowed for the measurement of the cranial base angles. Results One patient (4%) had hyponasal resonance, 8 (33%) had normal resonance, 10 (42%) had hypernasal resonance on vowels only, and 5 (21%) had hypernasal resonance on both vowels and consonants. The mean cranial base angle was $136.5^{\circ}$ (standard deviation, $5.3^{\circ}$; range, $122.3-144.8^{\circ}$). The Kruskal-Wallis test showed no significant relationship between the resonance ratings and cranial base angles (P=0.242). Cranial base angles and speech ratings were not correlated (Spearman correlation=0.321, P=0.126). The group with hypernasal resonance had a significantly more obtuse mean cranial base angle ($138^{\circ}$ vs. $134^{\circ}$, P=0.049) but did not have a greater prevalence of platybasia (73% vs. 56%, P=0.412). Conclusions In this retrospective chart review of patients with 22q11DS, cranial base angles were not correlated with speech resonance. The clinical significance of platybasia remains unknown.

• 대한치과마취과학회지
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• 제13권1호
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• pp.13-18
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• 2013

CATCH 22 syndrome is a one of the most common chromosome microdeletion syndrome with multiple organ anomalies in humans, with an incidence of approximately 1:4,000 to 1:5,000 live births. It is caused by a microdeletion of 1.5 to 3.0 megabases on the long arm of chromosome 22. The phenotypic spectrum of this disorder is wide and various. A 19-year-old patient who showed delayed growth and development (Height; 110 cm, Weight; 18 kg) was referred to our department for the treatment of dental cavities. She was diagnosed as CATCH 22 syndrome in 2004. Physical examination revealed hypertelorism, a short philtrum, thick reflected lips and a small mouth. She underwent cleft palate surgery at 1 year of age and heart valve surgery due to the cardiovascular abnormality at 13 years of age. Convulsive seizures had persisted until 5 years ago but are well controlled at present. Oral examination showed poor oral hygiene, crowding, prolonged retention on #65, 75 and dental cavities on #16, 21, 65, 26, 36, and 46. Cavity treatment and prophylaxis were performed under general anesthesia. Also continuous follow-up checks have been carrying out with the periodic prophylaxis and dental home education. Problems with numerous cavities and gingivitis which can lead to specific risks are common for CATCH 22 syndrome patients. It is therefore of great importance that these patients are referred to foremost physician and dental specialist for the oral care. In addition, preventive treatment targeting the risk of dental cavities and gingivitis is especially important and, as the syndrome involves many different medical problems, the dental treatment should be carried out in collaboration with the patient's physician.

• Journal of Genetic Medicine
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• 제6권2호
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• pp.175-178
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• 2009

22q11.2미세중복 증후군은 학습장애, 선천적 기형에서부터 정상에 이르기까지 다양한 표현형을 나타내는 증후군으로써, 22q11.2 미세결실 증후군인 DiGeorge 증후군과 동일한 위치에서 발생하는 질환이며, 이러한 원인은 유전적 불안정성이 높은 low-copy repeats (LCR) 부위에서 일어나는 유전체의 결손이나 중복에 의해 형성되는 것으로 보고되고 있다. 최근 array CGH가 임상분야에 적용됨에 따라 22q11.2 미세중복 증후군의 진단이 증가되고 있다. 이론적으로 22q11.2 부위의 미세중복이나 미세결실의 빈도는 동일하게 발생해야 하지만, 현재까지 미세결실에 비해 미세중복의 증례보고는 상대적으로 드물며 이는 증상이 없는 경우가 많기 때문인 것으로 알려져 있다. 특히 이전 보고에서 산전에 발견된 미세중복의 증례는 단1례 만이 보고된 바 있다. 저자들은 산전에 진단된 22q11.2 미세중복 증후군 1례의 보고를 통해 유전상담의 중요성과 array CGH의 임상 적용에 관하여 논하고자 한다.