Identifying of 22q11.2 variations in Chinese patients with development delay

Zhang, Yuanyuan; Liu, Xiaoliang; Gao, Haiming; He, Rong; Zhao, Yanyan

doi:10.1186/s12920-020-00849-z

Cited by 11 publications

(12 citation statements)

References 24 publications

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“…This indicated that SNAP29 is essential for male fertility and spermatogenesis [ 45 ]. Other study also indicated that patients with typical LCR22 A-D deletions may present with cryptorchidism [ 46 ]. Furthermore, fetal loss or infant death is a rare symptom in patients with 22q11.2DS [ 37 ].…”

Section: Discussionmentioning

confidence: 99%

Hypoparathyroidism and late-onset hypogonadism in an adult male with familial 22q11.2 deletion syndrome: a case report with 3-year follow-up and review of the literature

Chen

Yang

et al. 2022

BMC Endocr Disord

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Background 22q11.2 deletion syndrome (DiGeorge syndrome) is associated with multiple organ dysfunctions such as cardiac defects, immunodeficiency, and hypoplasia of parathyroid glands. Moreover, the phenotype of 22q11.2 DS has clinical variability and heterogeneity. Case presentation In this report, we present the case of a 35-year-old patient with a past medical history that included recurrent infections, mild learning difficulties in childhood, pediatric obesity, and cataract. He was admitted to the endocrinology department for the management of hypogonadism and hypocalcemia. During the 3-year follow-up, the patient gradually developed primary hypoparathyroidism, hypogonadism, chronic renal failure, and heart failure, and his medical condition deteriorated. Meanwhile, in order to improve clinicians’ awareness of the endocrine manifestations of adult 22q11.2 DS and reduce missed diagnoses, we reviewed 28 case reports of adult 22q11.2 DS to analyze the clinical characteristics. Discussion Here, we report the case of a young man diagnosed with 22q11.2 DS presented a rare combination of multiple endocrine disorders. This is the first time that a patient with 22q11.2DS had late-onset hypogonadism caused by primary testicular failure combined with decreased pituitary gonadotropin reserve in a patient with 22q11.2DS.

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Section: Discussionmentioning

confidence: 99%

Hypoparathyroidism and late-onset hypogonadism in an adult male with familial 22q11.2 deletion syndrome: a case report with 3-year follow-up and review of the literature

Chen

Yang

et al. 2022

BMC Endocr Disord

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“…MLPA assay was carried out in accordance with the manufacturer’s instructions. The SALSA P245 probe mix (MRC-Holland, Netherlands) was used to screen for microdeletion/microduplication syndromes as previously described [ 5 ]. The SALSA P371 probe mix (MRC-Holland, Netherlands), which encompasses more probes specific for the chromosome 15q24 region, was used to confirm the deletion and infer the deletion size.…”

Section: Methodsmentioning

confidence: 99%

Molecular and phenotypic characteristics of 15q24 microdeletion in pediatric patients with developmental disorders

et al. 2021

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Chromosome 15q24 microdeletion is a rare genetic disorder characterized by development delay, facial dysmorphism, congenital malformations, and occasional autism spectrum disorder (ASD). In this study, we identified five cases of 15q24 microdeletion using multiplex ligation-dependent probe amplification (MLPA) technology in a cohort of patients with developmental delay and/or intellectual disability. Two of these five cases had deletions that overlapped with the previously defined 1.1 Mb region observed in most reported cases. Two cases had smaller deletions (< 0.57 Mb) in the 15q24.1 low copy repeat (LCR) B-C region. They presented significant neurobehavioral features, suggesting that this smaller interval is critical for core phenotypes of 15q24 microdeletion syndrome. One case had minimal homozygous deletion of less than 0.11 Mb in the 15q24.1 LCR B-C region, which contained CYP1A1 (cytochrome P450 family 1 subfamily A member 1) and EDC3 (enhancer of mRNA decapping 3) genes, resulting in poor immunity, severe laryngeal stridor, and lower limbs swelling. This study provides additional evidence of 15q24 microdeletion syndrome with genetic and clinical findings. The results will be of significance to pediatricians in their daily practice.

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“…MLPA assay and the subsequent results analyses were performed as previously described [ 12 ]. Briefly, The SALSA MLPA KIT P245 (MRC Holland, Amsterdam, Netherlands) were used for MLPA analysis according to the manufacturer’s instructions.…”

Section: Methodsmentioning

confidence: 99%

“…Conventional chromosome G-band karyotyping analysis of the cultures of peripheral blood and amniotic fluid blood cells was performed as previously described [ 12 ]. Leica CytoVision (Leica, USA) was used to capture images of mitotic metaphase chromosomes.…”

Section: Methodsmentioning

confidence: 99%

Copy number variations of chromosome 17p11.2 region in children with development delay and in fetuses with abnormal imaging findings

et al. 2021

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Background Deletion and duplication of the 3.7 Mb region in 17p11.2 result in two syndromes, Smith-Magenis syndrome and Potocki-Lupski syndrome, which are well-known development disorders. The purpose of this study was to determine the prevalence, genetic characteristics and clinical phenotypes of 17p11.2 deletion/duplication in Chinese children with development delay and in fetuses with potential congenital defects. Methods 7077 children with development delay and/or intellectual disability were screened by multiplex ligation-dependent probe amplification P245 assay. 7319 fetuses with potential congenital defects were tested using next generation sequencing technique. Results 417 of 7077 pediatric patients were determined to carry chromosome imbalance. 28 (28/7077, 0.4%) cases had imbalance at chromosome 17p11.2. Among them, 12 cases (42.9%) had heterozygous deletions and 16 cases (57.1%) had heterozygous duplications. The clinical phenotypes were variable, including neurobehavioral disorders, craniofacial/skeletal anomalies, immunologic defects, ocular problems and organ malformations. 263 of 7319 fetuses were recognized to have genomic copy number variations. Only 2 of them were found to harbor 17p11.2 imbalance. The fetus with deletion presented with ventricular septal defect and the fetus with duplication had cerebral ventricle dilation. Conclusion Our study highlights the phenotypic variability associated with 17p11.2 variations in China. The results further expand the phenotypic spectrum of SMS/PTLS and increase awareness of these disruptive mutations among clinicians.

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Identifying of 22q11.2 variations in Chinese patients with development delay

Cited by 11 publications

References 24 publications

Hypoparathyroidism and late-onset hypogonadism in an adult male with familial 22q11.2 deletion syndrome: a case report with 3-year follow-up and review of the literature

Hypoparathyroidism and late-onset hypogonadism in an adult male with familial 22q11.2 deletion syndrome: a case report with 3-year follow-up and review of the literature

Molecular and phenotypic characteristics of 15q24 microdeletion in pediatric patients with developmental disorders

Copy number variations of chromosome 17p11.2 region in children with development delay and in fetuses with abnormal imaging findings

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