Molecular Syndromology最新文献

{"title":"A Unique Derivative Chromosome 4 with a Predominant 4p16.3 Microduplication Phenotype and a Literature Review.","authors":"Mona K Mekkawy, Alaa K Kamel, Khaled M Refaat, Abdelrahman Madian, Mahmoud Issa, Sally G Abd Allah, Ola M Eid, Maha S Zaki, Amal M Mohamed","doi":"10.1159/000540454","DOIUrl":"10.1159/000540454","url":null,"abstract":"<p><strong>Introduction: </strong>Constitutional structural abnormalities affecting chromosome 4 result in variable distinct phenotypic traits including duplication 4p syndrome, deletion 4p or Wolf-Hirschhorn syndrome (WHS), deletion 4q and duplication 4q syndromes. Complex rearrangements involving both chromosome 4 arms are very rarely reported with different break points occurring within regions of 4p13-p16 and 4q32-35. They most commonly occur in familial cases due to parental pericentric inversion resulting in a recombinant chromosome 4 \"rec(4).\" The clinical picture is dependent on the size and type of copy number imbalance and the genes involved.</p><p><strong>Methods: </strong>We report on a female patient with delayed developmental milestones and lower limb anomalies, who carried a de novo unique type of complex rearrangement affecting both chromosome 4 arms, diagnosed by karyotype and fluorescence in situ hybridization analysis and chromosomal microarray (CMA).</p><p><strong>Results: </strong>The chromosome 4 rearrangement involved three copy number alterations, consisting of a terminal 1.17 Mb 4p16.3 deletion with a contiguous proximal 1.8 Mb 4p16.3 duplication, including the Wolf-Hirschhorn critical (WHSC) region, and an inverted 27 Mb terminal 4q32-35.2 duplication attached to terminal 4p. The patient's predominant phenotype was consistent with 4p16.3 microduplication syndrome. The rearrangement occurred as a de novo abnormality, and thus it was designated as a derivative chromosome 4. To the best of our knowledge, this complex type of chromosome 4 rearrangement has not been reported so far.</p><p><strong>Conclusion: </strong>The present report adds to the scarce 4p16.3 microduplication syndrome reports and emphasizes the role of WHSC region in the syndromic phenotype. It also reveals the importance of CMA in detecting subtle copy number variations (CNVs) that could be dominantly reflected on the phenotype, which is very important in patients' management and family counselling.</p>","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":"16 1","pages":"11-28"},"PeriodicalIF":0.9,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11793892/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143256742","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Novel Splice Site Variant in <i>KLHL40</i> Gene in Multiple Affected NEM8 Family Members Who Present Phenotypic Variability.","authors":"Beria Sönmez, Mehmet Kocabey, Ayşe İpek Polat, Semra Gürsoy, Pakize Karaoğlu, Rita Horvath, Katherine R Schon, Ayfer Ülgenalp, Uluç Yiş, Ahmet Okay Çağlayan, Özlem Giray Bozkaya","doi":"10.1159/000540325","DOIUrl":"10.1159/000540325","url":null,"abstract":"<p><strong>Introduction: </strong>Nemaline myopathy (NEM) is a heterogeneous muscle disease, which usually presents with hypotonia and muscle weakness. Biallelic pathogenic variants of <i>KLHL40</i> gene cause severe form of NEM (NEM8), which leads to a wide range of symptoms, including hypotonia, muscle weakness, joint contractures and fractures. Nemaline bodies in muscle fiber are characteristic findings of the disease.</p><p><strong>Case presentation: </strong>Here, we presented three affected individuals in a family with variable phenotypes, in whom the same novel splice-site variant in <i>KLHL40</i> gene (c.1607+3A>T) was detected.</p><p><strong>Discussion: </strong>This study expanded the spectrum of genotype and phenotype of NEM8, and emphasized that molecular genetic tests are highly valuable in diagnosis of patients with inconclusive muscle biopsy results.</p>","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":"16 1","pages":"61-68"},"PeriodicalIF":0.9,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11793885/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143256760","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Expression of Autophagy-Related Proteins in Microlissencephaly Associated with a Novel Variant in the <i>WDR81</i> Gene.","authors":"Hatice Yelda Yalçın, Ufkay Karabay, Tayfun Cinleti, Pelin Teke Kısa, Mehtap Yüksel Eğrilmez, Akif Ayaz, Nihal Aydın","doi":"10.1159/000540339","DOIUrl":"10.1159/000540339","url":null,"abstract":"<p><strong>Introduction: </strong>Microlissencephaly is a subtype of congenital microcephaly characterized by extreme microcephaly with simplified gyral pattern. Other brain malformations may accompany it. <i>WDR81</i> encodes a multi-domain transmembrane protein that is predominantly expressed in the brain and is thought to play a role in endolysosomal trafficking and autophagy.</p><p><strong>Methods: </strong>We reported two siblings with microlissencephaly born to consanguineous Turkish parents and reviewed all previously reported patients with <i>WDR81</i> variants presenting with severe microcephaly accompanied by congenital brain malformations. Whole-exome sequencing was performed on both siblings. Sanger DNA sequencing was performed on the patients' parents. We also examined LC3, p62, and Beclin 1 mRNA and protein expression levels from blood samples of both siblings using real-time PCR and Western blotting, respectively.</p><p><strong>Results: </strong>Whole-exome sequencing revealed a novel biallelic c.4157+5G>A splice variant in the <i>WDR81</i> gene in both siblings. In our study, LC3, p62, and Beclin 1 mRNA expression levels were high, LC3 protein expression level was also high and p62 and Beclin 1 protein expression levels were low.</p><p><strong>Conclusion: </strong>High LC3 and low p62 protein expression levels supported studies concluding that <i>WDR81</i> inhibits autophagy through PI3KC3 inhibition, while low Beclin 1 protein expression level supported studies concluding that autophagy is suppressed in case of loss of function variants in the <i>WDR81</i> gene. We suggest that due to its role in endolysosomal trafficking, <i>WDR81</i>-related diseases should be included in vesicular trafficking disorders.</p>","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":"16 1","pages":"1-10"},"PeriodicalIF":0.9,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11793889/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143256751","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Case of Opsismodysplasia with a Novel <i>INPPL1</i> Variant.","authors":"Tuğba Daşar, Ebru Aypar, Gülen Eda Utine, Pelin Özlem Şimşek-Kiper","doi":"10.1159/000540189","DOIUrl":"10.1159/000540189","url":null,"abstract":"<p><strong>Introduction: </strong>Opsismodysplasia is a rare autosomal recessive genetic skeletal disorder characterized by short stature, short limbs, small hands and feet, delayed bone age, severe platyspondyly, metaphyseal cupping, and facial dysmorphism. Opsismodysplasia is caused by biallelic variants in the <i>INPPL1</i> gene. Only 38 patients with a confirmed molecular diagnosis have been reported so far.</p><p><strong>Case presentation: </strong>We present a 9-month-old male patient who was referred to our clinic with a suspicion of mucopolysaccharidoses due to facial features and radiographic findings, but urine glycosaminoglycans were within normal ranges. Audiologic and ophthalmologic assessments, transfontanelle ultrasound, and echocardiography were all normal. A renal cortical cyst with a diameter of 33 × 28 mm was detected in abdominal ultrasound. He had dysmorphic findings including relative macrocephaly, midface hypoplasia, depressed nasal bridge, anteverted nostrils, long philtrum, small hands and feet, and brachydactyly. His length was 63 cm (-3.7 SD) and his arm span was 58 cm. Delayed bone age, short metacarpals and phalanges, wide and irregular metaphysis, platyspondyly, anterior beaking of the vertebrae, T12 vertebral hypoplasia, and acetabular dysplasia were noted on X-rays. Exome sequencing revealed a novel homozygous c.147C>G (p.Ser49Arg) variant in <i>INPLL1</i>.</p><p><strong>Conclusion: </strong>Opsismodysplasia is an extremely rare skeletal disorder, and with this case, we further expand the clinical and molecular spectrum of opsismodysplasia.</p>","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":"16 1","pages":"49-54"},"PeriodicalIF":0.9,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11793891/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143256050","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Novel Truncating Variant in Sandestig-Stefanova Syndrome with Hydrocephalus.","authors":"Gülnihal Bulut, Gözde Tutku Turgut, Güven Toksoy, Umut Altunoğlu, Ayça Dilruba Aslanger, Zehra Oya Uyguner, Birsen Karaman","doi":"10.1159/000540314","DOIUrl":"10.1159/000540314","url":null,"abstract":"<p><strong>Introduction: </strong>Sandestig-Stefanova syndrome (MIM:618804) is characterized by pre- and postnatal microcephaly, trigonocephaly, bilateral congenital cataracts, microphthalmia, cleft lip and palate or high-arched palate, camptodactyly, rocker-bottom feet, heart anomalies, periventricular white matter loss, thin corpus callosum, and delayed myelination. Bi-allelic loss-of-function variants in the <i>Nucleoporin 188 (NUP188)</i> (MIM:615587) gene are implicated in the etiology.</p><p><strong>Case presentation: </strong>Our patient, born to consanguineous parents, presented with tetralogy of Fallot, bilateral congenital cataracts, hydrocephalus, a bifid uvula, a right pelvic kidney, hepatomegaly, facial feature findings, and a history of a similarly affected ex-sibling. Whole exome sequence analysis in the index case revealed a novel homozygous variant NM_015354.2: c.124C>T/p.(Arg42Ter) in the <i>NUP188</i> gene.</p><p><strong>Conclusion: </strong>This study describes a new patient with Sandestig-Stefanova syndrome harboring a novel pathogenic variant in the <i>NUP188</i> gene.</p>","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":"16 1","pages":"69-76"},"PeriodicalIF":0.9,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11793897/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143256704","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Key Clinical and X-Ray Characteristics for the Diagnosis of Kenny-Caffey Syndrome Types 1 and 2.","authors":"Enver Simsek, Sumeyye Emel Eren, Atilla Cayir, Oguzhan Tokur, Oguz Cilingir, Tulay Simsek","doi":"10.1159/000540377","DOIUrl":"10.1159/000540377","url":null,"abstract":"<p><strong>Introduction: </strong>Kenny-Caffey syndrome (KCS) is a rare syndrome characterized by short stature, hypoparathyroidism, eye abnormalities, and skeletal dysplasia. Two types of KCS result from pathogenic variants in the tubulin-specific chaperone E (<i>TBCE</i>) gene and the family with sequence similarity 111 member A (<i>FAM111A</i>) gene, respectively.</p><p><strong>Case presentation: </strong>In this study, we present 4 patients from three different families exhibiting facial dysmorphism, postnatal growth retardation, short stature, delayed bone age, cortical thickening and medullary stenosis of the bones, and hypoparathyroidism. Two of these cases were diagnosed with growth hormone (GH) deficiency and underwent GH therapy, highlighting the response to GH treatment in KCS. Three consanguineous cases of KCS type 1 possess a homozygous variant c.155_166del in the <i>TBCE</i> gene, and 1 patient with KCS type 2 has a de novo pathogenic variant c.1706G>A (p.Arg569His) in the <i>FAM111</i> gene.</p><p><strong>Conclusions: </strong>Our findings suggest that prenatal and postnatal growth failure is a prominent characteristic of this syndrome, with KCS types 1 and 2 showing overlapping features.</p>","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":"16 1","pages":"77-86"},"PeriodicalIF":0.9,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11793900/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143256951","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Novel Homozygous Variant in <i>CPLANE1</i> Gene in a Patient with Developmental Deficits.","authors":"Bhagyalakshmi Shankarappa, Vishnu P Prasad, Sujith Kumar, Ravi Shankar Rao, Angel Beula Royal, Mahadeva Swamy, Pannaga Prasad, Ashitha S Niranjana Murthy, Suhas Ganesh, Biju Viswanath, Sanjeev Jain, Meera Purushottam, Murali Thyloth","doi":"10.1159/000541167","DOIUrl":"10.1159/000541167","url":null,"abstract":"<p><strong>Background: </strong>Oral-facial-digital syndrome (OFDS) type 6 is a rare subtype of Joubert syndrome characterized by orofacial anomalies and polydactyly with neurological features of Joubert syndrome. This rare syndrome is divided into thirteen subtypes, all of which demonstrate autosomal recessive inheritance, except for OFDS type 1 which demonstrates X-linked dominant inheritance.</p><p><strong>Case presentation: </strong>A 19-year-old man with mild developmental delay was brought to a rural community clinic, as he had become irritable and angry, in the recent past. There was no history of prior medical conditions. In view of orofacial anomalies, and developmental deficits, a genetic analysis was requested. Karyotype analysis revealed a normal male karyotype (46,XY) in all 30 metaphase spreads analyzed. No numerical or structural chromosomal abnormalities were observed. Clinical exome sequencing and chromosomal microarray detected a variant of uncertain significance in exon 5 of <i>CPLANE1</i> gene c.365T>G (p.Val122Gly) leading to substitution of Glycine for Valine. This was confirmed by Sanger sequencing. Parents were heterozygous, and the unaffected sibling was homozygous for the wild-type allele. This variant has not been reported earlier in the mutation databases or gnomAD. Runs of homozygosity (ROH) analysis showed a 3.2 Mb ROH around the <i>CPLANE1</i> gene in the proband, which was absent in both parents and the unaffected sibling.</p><p><strong>Conclusion: </strong>We find a novel homozygous mutation in the <i>CPLANE1</i> gene in a patient of non-consanguineous parentage with atypical orofacial features. This suggests that potentially deleterious, rare variants may occur in the heterozygous state in the population. Hence, sequencing of population samples might help understand the genetic epidemiology of rare syndromes.</p>","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":"16 1","pages":"87-92"},"PeriodicalIF":0.9,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11793906/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143256470","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Novel X-Linked Variant c.1772delG (p.G591fs*20) in <i>IRS4</i> in Two Related Patients with Central Hypothyroidism.","authors":"Özge Köprülü, Hilmi Tozkır","doi":"10.1159/000543796","DOIUrl":"10.1159/000543796","url":null,"abstract":"<p><strong>Introduction: </strong>Central hypothyroidism (CeH) is characterized by thyroid hormone deficiency due to impairment of pituitary thyroid stimulating hormone or hypothalamic TRH biosynthesis. It is extremely rare and affects approximately 1:16,000-100,000 individuals. Diagnosis, especially of isolated CeH, may be challenging. CeH is often seen as a part of multiple pituitary hormone deficiencies, but it can also be seen as isolated CeH. To date, some variants that can cause CeH have been identified, although in a number of patients the cause has not been clarified. Recently, variants of the insulin receptor substrate 4 (<i>IRS4</i>) gene have been reported to be the cause of isolated CeH. Herein, we report two related patients and their family with carriers with a novel X-linked frameshift variant in the <i>IRS4</i> gene. It has also been shown that thyroid function may be slightly affected in the heterozygous female carriers in our study.</p><p><strong>Case presentation: </strong>Herein, we reported two Turkish male patients with CeH due to a hemizygous variant in <i>IRS4</i>. The index case was a 15-year-and-2-month-old male who presented with a low serum-free thyroxin level, which was incidentally detected.</p><p><strong>Conclusion: </strong>Isolated CeH should keep in mind in insistent low fT4 levels without an increase in thyroid stimulating hormone levels. Genetic testing can aid in identifying the underlying cause of CeH in such cases. This report demonstrates the significance of providing comprehensive laboratory and molecular features of the patients and carriers with the <i>IRS4</i> variants.</p>","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":" ","pages":""},"PeriodicalIF":0.9,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12490861/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145233961","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Novel Insights Aortic Root Dilatation in an Individual with 3p21.31 Deletion.","authors":"David Zocche, Lucy Platts, Maha Younes, Andrew Flemming, Nitha Naqvi, Jan Cobben, Fleur Van Dijk","doi":"10.1159/000543371","DOIUrl":"10.1159/000543371","url":null,"abstract":"<p><strong>Introduction: </strong>Interstitial deletions in 3p21.31 are rare and have been associated with developmental delay, intellectual disability, and facial dysmorphism. To our knowledge, there are no reported individuals with a 3p21.31 interstitial deletion associated with aortic root dilatation.</p><p><strong>Case presentation: </strong>We report a 2-year-old girl with 3p21.31p14.3 deletion, aortic root dilatation, global developmental delay, hypotonia, and distinctive facial features. The size of this interstitial deletion is 6.8 Mb and it encompasses 120 genes. None of these genes have a known association with aortic complications. A custom gene panel of 37 genes associated with familial thoracic aortic aneurysm did not identify a known monogenic cause of aortic dilatation in this individual.</p><p><strong>Conclusion: </strong>This case represents an expansion of the phenotypic spectrum associated with 3p21.31 deletions, highlighting the novel association with aortic root dilatation. Further studies are needed to explore potential mechanisms linking this chromosomal deletion to vascular complications.</p>","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":" ","pages":""},"PeriodicalIF":0.9,"publicationDate":"2025-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12511540/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145281436","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ophthalmological and Orthoptic Findings in Down Syndrome: Is Genotype-Phenotype Correlation Possible?","authors":"Melisa Akgoz Koyuncuoglu, Hande Taylan Sekeroglu, Gizem Urel Demir, Ozlem Simsek Kiper, Jale Karakaya, Gulen Eda Utine","doi":"10.1159/000543395","DOIUrl":"10.1159/000543395","url":null,"abstract":"<p><strong>Introduction: </strong>This is a preliminary study to investigate a feasible genotype-phenotype correlation by defining ophthalmological findings in different genotypes of Down syndrome (DS).</p><p><strong>Methods: </strong>The study included 62 eyes of 31 DS patients. Patients were further subgrouped according to cytogenetic forms of DS. A comprehensive ophthalmological examination was performed and, biometric, keratometric, and pachymetric parameters were evaluated.</p><p><strong>Results: </strong>The mean best-corrected visual acuity (BCVA) of trisomy 21 was 0.41 ± 0.14 (0.1-0.6) and was 0.6 ± 0.09 (0.5-0.7) for both mosaic and translocation trisomy 21 (<i>p</i> = 0.004). While 6 of the trisomy 21 patients (24%), 2 of the mosaic patients (66.7%), and all of the three translocation type patients had a normal accommodation response, the remaining patients had accommodation lags (<i>p</i> = 0.013).</p><p><strong>Conclusions: </strong>Lens opacities and fundus abnormalities were more common in trisomy 21 (<i>p</i> < 0.001). The angle kappa was larger in trisomy 21 and smallest in the translocation trisomy 21 (<i>p</i> = 0.014). K₂ and corneal apex curvature were highest in trisomy 21 (<i>p</i> = 0.05 and <i>p</i> = 0.006, respectively). BCVA and accommodation response were reduced whereas lenticular opacities and fundus abnormalities were more common in trisomy 21. In addition, central cornea was steeper and angle kappa was larger. Further studies with larger cohorts would display differences among subgroups of cytogenetic abnormality.</p>","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":" ","pages":""},"PeriodicalIF":0.9,"publicationDate":"2025-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12511538/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145281509","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}