Possible genes responsible for developmental delay observed in patients with rare 2q23q24 microdeletion syndrome: Literature review and description of an additional patient

2017 ◽  
Vol 57 (4) ◽  
pp. 109-113 ◽  
Author(s):  
Keiko Shimojima ◽  
Nobuhiko Okamoto ◽  
Toshiyuki Yamamoto
Keyword(s):  
Literature Review ◽  
Developmental Delay ◽  
Additional Patient ◽  
Microdeletion Syndrome

Two cases of DCDC2 ‐related neonatal sclerosing cholangitis with developmental delay and literature review

2021 ◽  
Author(s):  
Hannes Syryn ◽  
Anne Hoorens ◽  
Tassos Grammatikopoulos ◽  
Maesha Deheragoda ◽  
Sofie Symoens ◽  
...  
Keyword(s):  
Literature Review ◽  
Developmental Delay ◽  
Sclerosing Cholangitis

scholarly journals 1q44 microdeletion syndrome: A new case with potential additional features

2021 ◽  
Vol 16 (1) ◽  
pp. 92-96
Author(s):  
Elena-Silvia SHELBY ◽  
◽  
Tanser HUSEYINOGLU ◽  
Georgeta CARDOS ◽  
Liliana PADURE ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Grey Matter ◽  
Chromosome 1 ◽  
Global Developmental Delay ◽  
Microdeletion Syndrome ◽  
Genetic Syndrome ◽  
Skeletal Involvement ◽  
Craniofacial Dysmorphism ◽  
Prenatal Hydronephrosis ◽  
One Year

1q44 microdeletion syndrome (1q44 monosomy) is a newly described genetic syndrome characterized by the haploinsufficiency of a 6 Mb locus on the long arm of chromosome 1. The main features are global developmental delay, seizures, hypotonia and craniofacial dysmorphism. With a prevalence below one in a million cases, this syndrome is very rare and, hence, often passes undiagnosed. We present the case of a one year old girl admitted to our hospital with global developmental delay and several congenital abnormalities suggesting a plurimalformative syndrome. Microarray analysis detected a 967 kb deletion in the 1q44 region as well as a a 530 kb microduplication in the 14q31.1q31.2 region, the latter having unknown clinical significance as it contains no currently known OMIM genes. The patient’s phenotype was in accordance to 1q44 microdeletion syndrome. Furthermore, after studying the 1q44 microdeletion syndrome cases reported so far in the literature, we have noticed that our patient presented previously undescribed features of this syndrome, namely prenatal hydronephrosis, bifid hallux and grey matter heterotopy. Based on the cerebral, renal and skeletal involvement in 1q44 microdeletion syndrome, we suspect these might be additional, previously unreported features of 1q44 microdeletion syndrome.

scholarly journals Cardiofaciocutaneus syndrome: literature review and case report

2019 ◽  
Vol 8 (4) ◽  
pp. 49-53
Author(s):  
V. V. Umnov ◽  
N. V. Nikitina ◽  
A. M. Khodorovskaya ◽  
O. V. Barlova
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Literature Review ◽  
Developmental Delay ◽  
Congenital Anomalies ◽  
Mapk Pathway ◽  
Heart Defects ◽  
Multiple Congenital Anomalies ◽  
Cardiofaciocutaneous Syndrome

The cardiofaciocutaneous syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation. The syndrome is caused by molecular disturbances in the RAS/MAPK pathway. We report on the girl, 9 year-old, with the cardiofaciocutaneous syndrome presenting with typical craniofacial appearance, heart defects, ectodermal abnormalities, neglected orthopedic pathology, developmental delay and spasticity, which rare in this syndrome.

Alternating Hemiplegia of Childhood, neurological comorbidities, intrafamilial variability: case-reports and literature review.

2021 ◽  
Author(s):  
Piero Pavone ◽  
Xena Giada Pappalardo ◽  
Naira Mustafa ◽  
Sung Yoon Cho ◽  
Dong Kyu Jin ◽  
...  
Keyword(s):  
Literature Review ◽  
Developmental Delay ◽  
Age Of Onset ◽  
Case Reports ◽  
Epileptic Seizures ◽  
The Body ◽  
Motor Dysfunction ◽  
Missense Mutations ◽  
Alternating Hemiplegia Of Childhood ◽  
Novel Variant

Abstract BACKGROUND Alternating Hemiplegia of Childhood (AHC) is an uncommon and complex disorder characterized by age of onset before 18 months, recurrent hemiplegia of one or either sides of the body or quadriplegia. Neurological comorbidities observed in two couples of AHC affected children are here reported together with data drawn by literature review. Results of genetic analysis obtained in the probands are also discussed. Developmental delay, epilepsy, tonic or dystonic spells, nystagmus and autonomic manifestations are frequently reported. AHC is mainly caused by mutations in ATP1A3 gene, and to a lesser extent in ATP1A2 gene.CASE PRESENTATION Clinical and genetic findings of a couple of twins and a couple of siblings affected by AHC from two different Italian families were deeply examined. Intrafamilial clinical variability was shown in the present cases. A pathogenic variant rs606231437 in ATP1A3 gene was detected in twins. For the affected siblings of family 2, the genetic results showed that the older brother and the healthy father shared a novel variant of GRIN2A (c.3175T>A) gene, and two missense mutations in SCNIB (rs150721582) and KCNQ2 (rs771211103) genes. In the younger brother was found only the GRIN2A variant.CONCLUSIONS Developmental delay, epileptic seizures and motor dysfunction are features frequently associated to paroxysmal hemiplegic attacks. Hemiplegic episode is only a sign even if the most remarkable of several neurological comorbidities in AHC carriers. The comparison of molecular analysis among the four probands brings out how the genetic framework is not recurrent, but may result from an unexpected greater genetic heterogeneity.

scholarly journals Ocular Findings in the 16p11.2 Microdeletion Syndrome: A Case Report and Literature Review

2020 ◽  
Vol 2020 ◽  
pp. 1-5
Author(s):  
Cybil S. Stingl ◽  
Colleen Jackson-Cook ◽  
Natario L. Couser
Keyword(s):  
Literature Review ◽  
Wide Spectrum ◽  
Autism Spectrum ◽  
Extensive Literature ◽  
Microdeletion Syndrome ◽  
Ocular Adnexa ◽  
Hyperactivity Disorder ◽  
Ophthalmic Manifestations ◽  
Oppositional Defiant ◽  
Defiant Behavior

The recurrent 16p11.2 microdeletion is characterized by developmental delays and a wide spectrum of congenital anomalies. It has been well reported that individuals with this ∼593-kb interstitial deletion have an increased susceptibility toward the autism spectrum disorder (ASD). Abnormalities of the eye and ocular adnexa are also commonly associated findings seen in individuals with the 16p11.2 microdeletion syndrome, although these ophthalmic manifestations have not been well characterized. We conducted an extensive literature review to highlight the eye features in patients with the 16p11.2 microdeletion syndrome and describe a 5-year-old boy with the syndrome. The boy initially presented with intellectual disability, speech delay, and defiant behavior; diagnoses of attention deficit hyperactivity disorder (ADHD) and oppositional defiant disorder (ODD) were established. He had a Chiari malformation type 1. His ophthalmic features included strabismus, hyperopia, and ptosis, and a posterior embryotoxon was present bilaterally. From a systematic review of prior reported cases, the most common eye and ocular adnexa findings observed were downslanting palpebral fissures, deep-set eyes, ptosis, and hypertelorism.

An Interstitial 4q31.21q31.22 Microdeletion Associated with Developmental Delay: Case Report and Literature Review

2014 ◽  
Vol 142 (4) ◽  
pp. 227-238 ◽  
Author(s):  
Angeliki-Maria Vlaikou ◽  
Emmanouil Manolakos ◽  
Dimitrios Noutsopoulos ◽  
Georgios Markopoulos ◽  
Thomas Liehr ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Developmental Delay
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