scholarly journals Child with Deletion 9p Syndrome Presenting with Craniofacial Dysmorphism, Developmental Delay, and Multiple Congenital Malformations

2013 ◽  
Vol 2013 ◽  
pp. 1-4 ◽  
Author(s):  
Nirmala D. Sirisena ◽  
U. Kalpani S. Wijetunge ◽  
Ramya de Silva ◽  
Vajira H. W. Dissanayake
Keyword(s):  
Developmental Delay ◽  
Congenital Malformations ◽  
Pulmonary Hypoplasia ◽  
De Novo ◽  
Left Lung ◽  
Chromosome 9 ◽  
Terminal Deletion ◽  
Sri Lankan ◽  
Craniofacial Dysmorphism ◽  
Complete Collapse

A 4-month-old Sri Lankan male child case with ade novoterminal deletion in the p22→pter region of chromosome 9 is described. The child presented with craniofacial dysmorphism, developmental delay, and congenital malformations in agreement with the consensus phenotype. A distinctive feature observed in this child was complete collapse of the left lung due to malformation of lung tissue. Cytogenetic studies confirmed terminal deletion of the short arm of chromosome 9 distal to band p22 [46,XY,del(9)(p22→pter)]. This is the first reported case of ade novodeletion 9p syndrome associated with pulmonary hypoplasia. This finding contributes to the widening of the spectrum of phenotypic features associated with deletion 9p syndrome.

Unusual Chromosomal Rearrangement Resulted in Interstitial Monosomy 9p: Case Report

2016 ◽  
Vol 148 (1) ◽  
pp. 19-24 ◽  
Author(s):  
Ceren D. Durmaz ◽  
Kanay Yararbaş ◽  
Nüket Y. Kutlay ◽  
Özlem Türedi ◽  
İsmigül Akın ◽  
...  
Keyword(s):  
Case Report ◽  
Congenital Malformations ◽  
Chromosomal Rearrangement ◽  
De Novo ◽  
Psychomotor Development ◽  
Molecular Karyotyping ◽  
Fish Analysis ◽  
Chromosome 13 ◽  
Craniofacial Dysmorphism ◽  
Cytogenetic Studies

We report on a 4.5-year-old boy with interstitial monosomy 9p in a unique and complex de novo rearrangement. The patient had been referred for craniofacial dysmorphism, delayed psychomotor development, and various congenital malformations. We combined cytogenetic studies and FISH analyses to delineate the deletion. The result of our cytogenetic studies was 46,XY,der(9)(p22pter). In order to confirm the deletion, we also performed FISH analysis, which showed that the 9p subtelomeric region was inserted into chromosome 13. Molecular karyotyping was performed to describe the exact genomic breakpoints of the rearrangement. In conclusion, this case is a complex insertion/deletion abnormality which has not been reported before.

scholarly journals De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

2016 ◽  
Vol 98 (2) ◽  
pp. 373-381 ◽  
Author(s):  
Margot R.F. Reijnders ◽  
Vasilios Zachariadis ◽  
Brooke Latour ◽  
Lachlan Jolly ◽  
Grazia M. Mancini ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Congenital Malformations ◽  
De Novo ◽  
Loss Of Function ◽  
Female Specific

scholarly journals Case Report: Congenital Brain Dysplasia, Developmental Delay and Intellectual Disability in a Patient With a 7q35-7q36.3 Deletion

2021 ◽  
Vol 12 ◽  
Author(s):  
Liang-Liang Fan ◽  
Yue Sheng ◽  
Chen-Yu Wang ◽  
Ya-Li Li ◽  
Ji-Shi Liu
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Developmental Delay ◽  
Candidate Genes ◽  
De Novo ◽  
Chromosome Region ◽  
Single Nucleotide Polymorphism Array ◽  
Chinese Patient ◽  
Terminal Deletion ◽  
Deletion Syndrome

7q terminal deletion syndrome is a rare condition presenting with multiple congenital malformations, including abnormal brain and facial structures, developmental delay, intellectual disability, abnormal limbs, and sacral anomalies. At least 40 OMIM genes located in the 7q34-7q36.3 region act as candidate genes for these phenotypes, of which SHH, EN2, KCNH2, RHEB, HLXB9, EZH2, MNX1 and LIMR1 may be the most important. In this study, we discuss the case of a 2.5-year-old male patient with multiple malformations, congenital brain dysplasia, developmental delay, and intellectual disability. A high-resolution genome-wide single nucleotide polymorphism array and real-time polymerase chain reaction were performed to detect genetic lesions. A de novo 9.4 Mb deletion in chromosome region 7q35-7q36.3 (chr7:147,493,985–156,774,460) was found. This chromosome region contains 68 genes, some of which are candidate genes for each phenotype. To the best of our knowledge, this is a rare case report of 7q terminal deletion syndrome in a Chinese patient. Our study identifies a rare phenotype in terms of brain structure abnormalities and cerebellar sulcus widening in patients with deletion in 7q35-7q36.3.

A de novo Pericentric Inversion in Chromosome 4 Associated with Disruption of PITX2 and a Microdeletion in 4p15.2 in a Patient with Axenfeld-Rieger Syndrome and Developmental Delay

2017 ◽  
Vol 151 (1) ◽  
pp. 5-9 ◽  
Author(s):  
Živilė Maldžienė ◽  
Eglė Preikšaitienė ◽  
Salomėja Ignotienė ◽  
Natalija Kapitanova ◽  
Algirdas Utkus ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Pericentric Inversion ◽  
Patient Management ◽  
De Novo ◽  
Chromosomal Rearrangements ◽  
Genetic Alterations ◽  
Chromosome 4 ◽  
Rieger Syndrome ◽  
Craniofacial Dysmorphism ◽  
The Family

Axenfeld-Rieger syndrome (ARS) is a clinically and genetically heterogeneous group of autosomal dominantly inherited malformations that predominantly affect the eye but are also associated with craniofacial dysmorphism and dental abnormalities. A broad spectrum of genetic alterations involving PITX2 and FOXC1 lead to ARS. We report on a 4-year-old girl with clinical features of ARS and developmental delay due to a de novo apparently balanced pericentric inversion in chromosome 4. This report emphasizes that complementary investigations are necessary to precisely characterize chromosomal rearrangements. Elucidation of the exact genetic cause of ARS is important for comprehensive genetic counseling of the family members and for better patient management.

scholarly journals Jacobsen syndrome and neonatal bleeding: report on two unrelated patients

2021 ◽  
Vol 47 (1) ◽  
Author(s):  
Gregorio Serra ◽  
Luigi Memo ◽  
Vincenzo Antona ◽  
Giovanni Corsello ◽  
Valentina Favero ◽  
...  
Keyword(s):  
Developmental Delay ◽  
De Novo ◽  
Comparative Genomic ◽  
Fish Analysis ◽  
Variable Degree ◽  
Jacobsen Syndrome ◽  
Contiguous Gene ◽  
Clinical Consequences ◽  
11Q Deletion

Abstract Introduction In 1973, Petrea Jacobsen described the first patient showing dysmorphic features, developmental delay and congenital heart disease (atrial and ventricular septal defect) associated to a 11q deletion, inherited from the father. Since then, more than 200 patients have been reported, and the chromosomal critical region responsible for this contiguous gene disorder has been identified. Patients’ presentation We report on two unrelated newborns observed in Italy affected by Jacobsen syndrome (JBS, also known as 11q23 deletion). Both patients presented prenatal and postnatal bleeding, growth and developmental delay, craniofacial dysmorphisms, multiple congenital anomalies, and pancytopenia of variable degree. Array comparative genomic hybridization (aCGH) identified a terminal deletion at 11q24.1-q25 of 12.5 Mb and 11 Mb, in Patient 1 and 2, respectively. Fluorescent in situ hybridization (FISH) analysis of the parents documented a de novo origin of the deletion for Patient 1; parents of Patient 2 refused further genetic investigations. Conclusions Present newborns show the full phenotype of JBS including thrombocytopenia, according to their wide 11q deletion size. Bleeding was particularly severe in one of them, leading to a cerebral hemorrhage. Our report highlights the relevance of early diagnosis, genetic counselling and careful management and follow-up of JBS patients, which may avoid severe clinical consequences and lower the mortality risk. It may provide further insights and a better characterization of JBS, suggesting new elements of the genotype-phenotype correlations.

scholarly journals The de novo CACNA1A pathogenic variant Y1384C associated with hemiplegic migraine, early onset cerebellar atrophy and developmental delay leads to a loss of Cav2.1 channel function

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Maria A. Gandini ◽  
Ivana A. Souza ◽  
Laurent Ferron ◽  
A. Micheil Innes ◽  
Gerald W. Zamponi
Keyword(s):  
Developmental Delay ◽  
Early Onset ◽  
Structural Damage ◽  
De Novo ◽  
Splice Variants ◽  
Cerebellar Atrophy ◽  
Familial Hemiplegic Migraine ◽  
Significant Loss ◽  
Loss Of Function ◽  
Hemiplegic Migraine

AbstractCACNA1A pathogenic variants have been linked to several neurological disorders including familial hemiplegic migraine and cerebellar conditions. More recently, de novo variants have been associated with severe early onset developmental encephalopathies. CACNA1A is highly expressed in the central nervous system and encodes the pore-forming CaVα1 subunit of P/Q-type (Cav2.1) calcium channels. We have previously identified a patient with a de novo missense mutation in CACNA1A (p.Y1384C), characterized by hemiplegic migraine, cerebellar atrophy and developmental delay. The mutation is located at the transmembrane S5 segment of the third domain. Functional analysis in two predominant splice variants of the neuronal Cav2.1 channel showed a significant loss of function in current density and changes in gating properties. Moreover, Y1384 variants exhibit differential splice variant-specific effects on recovery from inactivation. Finally, structural analysis revealed structural damage caused by the tyrosine substitution and changes in electrostatic potentials.

Sleep Exacerbations and Facial Twitching: Diagnostic Clues for ADCY5-Related Dyskinesias

2020 ◽  
Author(s):  
Margherita Nosadini ◽  
Gianluca D'Onofrio ◽  
Maria Federica Pelizza ◽  
Concetta Luisi ◽  
Davide Padrin ◽  
...  
Keyword(s):  
Movement Disorder ◽  
Developmental Delay ◽  
De Novo ◽  
Brain Magnetic Resonance Imaging ◽  
Neurological Impairment ◽  
De Novo Mutation ◽  
Oligoclonal Bands ◽  
Emotional Stimuli ◽  
Childhood Onset ◽  
Ataxic Gait

Abstract Background Mutations in the adenylate cyclase 5 (ADCY5) gene are associated with childhood-onset paroxysmal dyskinesia. Methods We report a new video-documented case of pediatric ADCY5-related dyskinesia with de novo ADCY5 mutation. Results A boy born to nonconsanguineous parents after an uneventful pregnancy had developmental delay and hypotonia. At the age of 7 months, he presented with paroxysmal jerky–choreic–dystonic involuntary movements in wakefulness involving limbs, trunk, and face, exacerbated by emotional stimuli. These episodes gradually worsened in duration and frequency: at the age of 2.5 years, they occurred up to six times per day, and appeared also during sleep in prolonged bouts; the boy also had basal choreoathetoid–dystonic movements, hyperactivity, paraparetic–ataxic gait, generalized hypotonia with brisk tendon reflexes, drooling, and language delay with intellectual disability. Brain magnetic resonance imaging, electroencephalogram, electromyogram, eye review, metabolic investigations, oligoclonal bands, and autoantibodies were normal. Extensive genetic testing had not let to a diagnosis, until a heterozygous de novo mutation c.1252C > T (p.Arg418Trp) was identified in the ADCY5 gene. Clonazepam had partial effectiveness. The boy walked at the age of 3.5 years. At the age of 5 years, the paroxysmal movement disorder has slightly improved. Conclusion ADCY5 mutations should be considered among the differential diagnoses of early-onset paroxysmal choreic–athetosic–myoclonic–dystonic movement disorder involving limbs, trunk, and face, in patients with global neurological impairment with hypotonia and developmental delay. Facial dyskinesias and exacerbation by drowsiness/sleep and emotional stimuli are important clues that may allow a timely recognition of the disorder and avoidance of unnecessary diagnostic investigations.

scholarly journals 3D Imaging in Unilateral Primary Pulmonary Hypoplasia in an Adult: A Case Report

2011 ◽  
Vol 2011 ◽  
pp. 1-6
Author(s):  
Aristida Georgescu ◽  
Crinu Nuta ◽  
Simona Bondari
Keyword(s):  
3D Imaging ◽  
Pulmonary Hypoplasia ◽  
Left Lung ◽  
Left Lobe ◽  
X Rays ◽  
X Ray ◽  
Female Smoker ◽  
Multidetector Computer Tomography ◽  
Biological Tests ◽  
Chest X Ray

Unilateral primary pulmonary hypoplasia is rare in adulthood (UPHA); it is characterized by a decreased number of bronchial segmentation and decreased/absent alveolar air space. Classical chest X-ray may be confusing, and the biological tests are unspecific. We present a case of UPHA in a 60-year-old female, smoker, with 3 term normal deliveries, who presented with late recurrent pneumonias and bronchiectasis-type symptomathology, arterial hypertension, and obesity. Chest X-rays revealed opacity in the left lower pulmonary zone, an apparent hypoaerated upper left lobe and left deviation of the mediastinum. Preoperatory multidetector computer tomography (MDCT) presented a small retrocardiac left lung with 5-6 bronchial segmentation range and cystic appearance. After pneumonectomy the gross specimen showed a small lung with multiple bronchiectasis and small cysts, lined by hyperplasic epithelium, surrounded by stromal fibrosclerosis. We concluded that this UPHA occurred in the 4–7 embryonic weeks, and the 3D MDCT reconstructions offered the best noninvasive diagnosis.

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