In 2018, the first 22q11.2 multidisciplinary program in the state of Florida was created at Joe DiMaggio Children's Hospital following the new paradigm for best care of 22q11.2 deletion patients. Since inauguration, the clinic flourished despite challenges. Our 22q clinic has 149 patients ranging from ages 0-21. From that total, 138 are 22q11.2DS: 74 females and 64 males (44% Hispanics, 35% Caucasians, 11% African American, 3% Asian and 7% multiracial). Eleven patients are in the 22q11.2 duplication group; 7 females and 4 males (50% Hispanics, 30% Caucasians 10% Asian and 10% multiracial). Our multidisciplinary team has grown to include twelve different specialties to better serve our growing patient population and has adapted to the pandemic by offering virtual clinics. Although there are many 22q multidisciplinary clinics worldwide, our clinic has special characteristics. We have an ethnically diverse group of patients and a large team of mostly bilingual providers who are passionate about and have expertise on 22q Deletion/Duplication Syndromes. Our 22q clinic is based at a community hospital and counts on the partnership of local 22q patient support groups. The program is also unique in that it is now expanding to care for adult 22q patients. Our clinic is another live example of how multidisciplinary care is the best way to achieve the most optimal outcomes in 22q patients, and that if there is a passionate and dedicated team of providers willing to collaborate for these patients, a 22q multidisciplinary program can thrive, succeed and grow at a community hospital.

The world has suffered immeasurably during the COVID-19 pandemic. Increased distress and mental and medical health concerns are collateral consequences to the disease itself. The Genes to Mental Health (G2MH) Network consortium sought to understand how individuals affected by the rare copy number variations of 22q11.2 deletion and duplication syndrome, associated with neurodevelopmental/neuropsychiatric conditions, were coping. The article focuses on worry and disruptions in medical care caused by the pandemic. The University of Pennsylvania COVID-19 Stressor List and care disruption questions were circulated by 22 advocacy groups in English and 11 other languages. A total of 512 people from 23 countries completed the survey; most were caregivers of affected individuals. Worry about family members acquiring COVID-19 had the highest average endorsed worry, whilst currently having COVID-19 had the lowest rated worry. Total COVID-19 worries were higher in individuals completing the survey towards the end of the study (later pandemic wave); 36% (n = 186) of the sample reported a significant effect on health due to care interruption during the pandemic; 44% of individuals (n = 111) receiving care for their genetic syndrome in a hospital setting reported delaying appointments due to COVID-19 fears; 12% (n = 59) of the sample reported disruptions to treatments; and of those reporting no current disruptions, 59% (n = 269) worried about future disruptions if the pandemic continued. Higher levels of care disruptions were related to higher COVID-19 worries (Ps < 0.005). Minimal differences by respondent type or copy number variation type emerged. Widespread medical care disruptions and pandemic-related worries were reported by individuals with 22q11.2 syndrome and their family members. Reported worries were broadly consistent with research results from prior reports in the general population. The long-term effects of COVID-19 worries, interruptions to care and hospital avoidance require further study.

22q11.2 deletion syndrome (22q11.2DS) and 22q11.2 duplication syndrome (22q11.2DupS) are the most common copy number variations in humans. The clinical phenotypes of these two syndromes are variable, and there are no large sample data on the prenatal detection rate for these two syndromes in the Chinese population. We recruited 411 pregnant women who showed either abnormal prenatal ultrasound findings or positive prenatal BoBs™ results or who had given birth to a child with chromosomal abnormalities. SNP-array analysis and interphase FISH analysis identified five fetuses with 22q11.2 copy number variants (CNVs), three of which were 22q11.2 deletion syndrome (22q11.2DS) (3/411) and two of which were 22q11.2 duplication syndrome (22q11.2DupS). In all 5 cases of diagnosed 22q11.2 abnormalities, inheritance could not be identified because the parents did not undergo further testing. Our case reports provide a detection rate of 22q11.2 CNVs for fetuses with prenatal diagnostic indications, and early diagnosis of these two syndromes was essential for prenatal intervention in these cases. SNP-array technology is an effective tool in the prenatal diagnosis of 22q11.2 CNVs. The prenatal diagnosis of these two syndromes is helpful for early intervention, which is of great clinical significance.

Congenital nephrotic syndrome (CNS), which is defined as heavy proteinuria, hypoalbuminemia, hyperlipidemia and edema, is most caused by monogenic defects in structural proteins of the glomerular filtration barrier in the kidneys. 22q11.2 duplication syndrome was a chromosomal disease with variable clinical featuresranging from normal to mental retardation and with congenital defects. Co-occurrence of two genetic disorders in a single patient is rare. The proband was born at 36 weeks of gestational age spontaneously and weighed 2350 g at birth. Six days after birth, the proband was admitted to our hospital due to fever of 38.5 °C lasting for 6 h. Physical examination at admission time showed dysmorphic features of hypertelorism, palpebral edema, broad nose bridge, upturned nose, dysmorphic auricle, long philtrum, and a thin upper lip. Additionally, we found left wrist drop and bilateral strephexopodia, bilateral knee joint flexion contracture in this patient. A series of indicators were detected and showed abnormalities. Albumin was used to remit the hypoproteinemia and edema. However, the parents refused to accept further therapy and the boy died at age 3 months due to cachexy. To confirm the pathogenesis, genetic analysis were performed and revealed two mutations of NPHS1 gene: Exon18: c.2386G > C; p. (Gly796Arg) inherited from mother, and intron24: c.3286 + 5G > A; p.? inherited from father. And he also had a 22q11.2 duplication which was inherited from his mild affected mother. The pathogenesis of the intronic mutation has been further identified that it can defect alternative splicing of NPHS1. We present a patient who was caught in congenital nephrotic syndrome and 22q11.2 duplication syndrome simultaneously, emphasizing the importance of new sequencing technology on diagnosis of different genetic disorders.

Chromosome 22q11.2 micro-duplication syndrome (MDS), is a rare autosomal dominant condition, with a highly variable phenotype that ranges from unremarkable and asymptomatic, to fatal due to cardiovascular defects. Hypertelorism, downslanting palpebral fissures, superior displacement of the eyebrows, and ptosis are the most commonly reported ocular manifestations. Here, we report a newborn with bilateral exposure, entropion, and corneal ulceration related to 22q11.2 MDS. A newborn girl presented with bilateral upper eyelid entropion, bilateral lower eyelid ectropion, and lagophthalmos. She subsequently developed bilateral corneal ulcers. Topical antibacterial drops, bandage contact lenses, medroxyprogesterone 1%, and fluorometholone 0.1%, together with partial tarsorrhaphy and correction of eyelid malposition, were used to treat the ulcers and address the underlying issues of exposure and entropion. Genetic testing revealed chromosome 22q11.2.MDS; further evaluation revealed systemic manifestations of this syndrome. The ocular surface healed well with gradual improvement of corneal opacification as well as bilateral partial tarsorrhaphy. This report is the first that describes a newborn with 22q11.2 MDS presenting with sight-threatening corneal ulceration. Entropion, ectropion, and lagophthalmos were identified and treated, allowing for healing of the corneal surface. Genetic testing revealed a syndrome not known to be associated with eyelid abnormalities and corneal ulceration, but with other important systemic and ocular implications. Bilateral partial tarsorrhaphy should not be excluded as a treatment option for infants who fail more conservative measures for the treatment of exposure.