scholarly journals 22q13.32 Deletion and Duplication and Inversion in the Same Family: A Rare Occurrence

2011 ◽  
Vol 2011 ◽  
pp. 1-4 ◽  
Author(s):  
Farooqua Jafri ◽  
James Fink ◽  
Rodney R. Higgins ◽  
Raymond Tervo
Keyword(s):  
Genetic Testing ◽  
Developmental Delay ◽  
Early Infancy ◽  
Deletion Syndrome ◽  
Global Developmental Delay ◽  
Rare Occurrence ◽  
Dysmorphic Features ◽  
Chromosome Imbalance ◽  
And Inversion ◽  
22Q13.3 Deletion Syndrome

Chromosome 22q13.3 deletion syndrome is a well-recognized cause of global developmental delay, while duplication of the same chromosome is a rare occurrence. The presence of both abnormalities in the same family has never been reported, to our knowledge. We report a rare occurrence of 22q13.3 duplication and 22q13.3 deletion in siblings, as a consequence of a mother's inversion on her 22nd chromosome (p13;q13.32). A 6 year old male was noted in infancy to have mild global developmental delay without dysmorphic features. His genetic testing revealed he had 22q13.3 duplication to the terminus. His 4 year old brother was noted in early infancy to have severe global developmental delay and dysmorphic features related to 22q13.3 deletion to the terminus. Their mother had a long inversion on her 22nd chromosome. Genetic tests for their father and eldest brother were unremarkable. The mother's inversion may rearrange to form 22q duplication or deletion when passed on to children. The chance of a child born with a chromosome imbalance is as high as 50%.

scholarly journals Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance

2018 ◽  
Vol 93 (4) ◽  
pp. 752-761 ◽  
Author(s):  
Z. Powis ◽  
K.D. Farwell Hagman ◽  
C. Mroske ◽  
K. McWalter ◽  
J.S. Cohen ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Global Developmental Delay ◽  
Dysmorphic Features ◽  
Reduced Penetrance

scholarly journals Genetic testing in patients with global developmental delay/intellectual disabilities. A review

2015 ◽  
Vol 88 (3) ◽  
pp. 288-292 ◽  
Author(s):  
Diana Miclea ◽  
Loredana Peca ◽  
Zina Cuzmici ◽  
Ioan Victor Pop
Keyword(s):  
Intellectual Disability ◽  
Genetic Testing ◽  
Developmental Disabilities ◽  
Developmental Delay ◽  
Chromosomal Abnormalities ◽  
Fragile X ◽  
Genetic Disorders ◽  
Global Developmental Delay ◽  
European Guidelines ◽  
High Prevalence

Genetic factors are responsible for up to 40 % developmental disability cases, such as global developmental delay/ intellectual disability (GDD/DI). The American and more recently, the European guidelines on this group of diseases state that genetic testing is essential and should become a standardized diagnostic practice. The main arguments for the necessity of implementing such a practice are: (1) the high prevalence of developmental disabilities (3% of the population); (2) the high genetic contribution to this type of pathology; (3) insufficient referral for genetic consultation. In an attempt to address these issues, the purpose of this paper is to present the genetic etiology of global developmental delay / intellectual disability with emphasis on the need to implement a genetic testing protocol for the patients with GDD/DI, as indicated by the current guidelines. Chromosomal abnormalities and fragile X syndrome are the most frequent causes of developmental disabilities and the techniques employed to detect such genetic disorders should be used as first line investigations of GDD/DI. 

Molecular Delineation of Partial Trisomy 14q and Partial Trisomy 12p in a Patient with Dysmorphic Features, Heart Defect and Developmental Delay

2015 ◽  
Vol 145 (1) ◽  
pp. 14-18 ◽  
Author(s):  
Divya Bose ◽  
Venkatesh Krishnamurthy ◽  
K.S. Venkatesh ◽  
Mohamed Aiyaz ◽  
Mitesh Shetty ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Congenital Heart ◽  
Array Cgh ◽  
Partial Trisomy ◽  
Oligonucleotide Array ◽  
Global Developmental Delay ◽  
Potential Candidate ◽  
Balanced Translocation ◽  
Dysmorphic Features ◽  
Novel Association

This study describes a molecular analysis of partial trisomy 14q and partial trisomy 12p in a 5-year-old male child presenting with dysmorphic features, congenital heart disease and global developmental delay. Chromosomal analysis of the patient with GTG bands revealed a 47,XY,+der(14)t(12;14)(p13;q22)mat karyotype; the mother's karyotype was 46,XX,t(12;14)(p13;q22). Further, oligonucleotide array- CGH studies revealed an amplification of 32.3 Mb in the 14q11.1q22.1 region, substantiating partial trisomy 14q and additionally displaying an amplification of ∼1 Mb in the 12p13.3pter region for partial trisomy 12p. This is the first study to demonstrate a novel association of partial trisomies of 14q and 12p due to a 3:1 segregation of a maternal balanced translocation involving chromosomes 12 and 14. Gene ontology studies indicated 5 potential candidate genes in the amplified regions for the observed congenital anomalies.

Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic features

2021 ◽  
Author(s):  
Shinichi Kameyama ◽  
Takeshi Mizuguchi ◽  
Hiromi Fukuda ◽  
Lip Hen Moey ◽  
Wee Teik Keng ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Global Developmental Delay ◽  
Dysmorphic Features

scholarly journals Adenosine Kinase Deficiency: Report and Review

2018 ◽  
Vol 50 (01) ◽  
pp. 046-050 ◽  
Author(s):  
Alhanouf Alhusani ◽  
Abdulrahman Obaid ◽  
Henk Blom ◽  
Anna Wedell ◽  
Majid Alfadhel
Keyword(s):  
Developmental Delay ◽  
Autosomal Recessive Disorder ◽  
Mendelian Inheritance ◽  
Developmental Dysplasia ◽  
Adenosine Kinase ◽  
Global Developmental Delay ◽  
Tall Stature ◽  
Current Case ◽  
Dysmorphic Features ◽  
The Central Nervous System

AbstractAdenosine kinase (ADK) deficiency (OMIM [online mendelian inheritance in man]: 614300) is an autosomal recessive disorder of adenosine and methionine metabolism, with a unique clinical phenotype, mainly involving the central nervous system and dysmorphic features. Patients usually present early in life with sepsis-like symptoms, respiratory difficulties, and neonatal jaundice. Subsequently, patients demonstrate hypotonia and global developmental delay. Biochemically, methionine is elevated with normal homocysteine levels and the diagnosis is confirmed through molecular analysis of the ADK gene. There is no curative treatment; however, a methionine-restricted diet has been tried with variable outcomes. Herein, we report a 4-year-old Saudi female with global developmental delay, hypotonia, and dysmorphic features. Interestingly, she has a tall stature, developmental dysplasia of the hip, optic nerve gliosis, and tigroid fundus. We found a mutation not reported previously and we compared the current case with previously reported cases. We alert clinicians to consider ADK deficiency in any neonate presenting with global developmental delay, hypotonia, dysmorphic features, and high methionine levels.

scholarly journals Array CGH Analysis and Developmental Delay: A Diagnostic Tool for Neurologists

2013 ◽  
Vol 40 (6) ◽  
pp. 777-782 ◽  
Author(s):  
F. Cameron ◽  
J. Xu ◽  
J. Jung ◽  
C. Prasad
Keyword(s):  
Developmental Delay ◽  
Uniparental Disomy ◽  
Chromosome Analysis ◽  
Deletion Syndrome ◽  
Global Developmental Delay ◽  
Unknown Etiology ◽  
Comparative Genomic ◽  
Illustrative Case ◽  
Genetic Syndromes ◽  
Copy Number Changes

Developmental delay occurs in 1–3% of the population, with unknown etiology in approximately 50% of cases. Initial genetic work up for developmental delay previously included chromosome analysis and subtelomeric FISH (fluorescent in situ hybridization). Array Comparative Genomic Hybridization (aCGH) has emerged as a tool to detect genetic copy number changes and uniparental disomy and is the most sensitive test in providing etiological diagnosis in developmental delay. aCGH allows for the provision of prognosis and recurrence risks, improves access to resources, helps limit further investigations and may alter medical management in many cases. aCGH has led to the delineation of novel genetic syndromes associated with developmental delay. An illustrative case of a 31-year-old man with long standing global developmental delay and recently diagnosed 4q21 deletion syndrome with a deletion of 20.8 Mb genomic interval is provided. aCGH is now recommended as a first line test in children and adults with undiagnosed developmental delay and congenital anomalies.

scholarly journals Child Neurology: Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Female

Neurology ◽  
2021 ◽  
pp. 10.1212/WNL.0000000000012445
Author(s):  
Darina Dinov ◽  
Gregory Vorona ◽  
Amy Harper
Keyword(s):  
Genetic Testing ◽  
Developmental Delay ◽  
Female Patient ◽  
Neurological Examination ◽  
Initial Evaluation ◽  
Global Developmental Delay ◽  
Mri Imaging ◽  
Child Neurology ◽  
Pediatric Neurology ◽  
Low Tone

POLR3- related disorders are rare hypo-myelinating leukodystrophies associated with hypodontia. We present a female patient, who was referred to pediatric neurology at 2 years of age for tremor, low tone, and motor delays. Additionally, she was noted to have a delay in her teeth eruption and myopia. Neurological examination was significant for ataxic features and global developmental delay. Laboratory workup was unrevealing. MRI imaging was significant for hypomyelination. Genetic testing confirmed a pathogenic variant of POLR3B. POLR3- related leukodystrophies should be considered in patients who present with hypotonia, ataxia and hypodontia. There are many different subtypes of POLR-related leukodystrophies each with distinguishing phenotypic and radiographic features. Although, MRI can be helpful in initial evaluation genetic testing is needed for confirmatory diagnosis and to guide prognosis.

scholarly journals A Case Report of Phelan-McDermid Syndrome: Successful Treatment with Growth Hormone Therapy

2020 ◽  
Author(s):  
RuiJin Xie ◽  
TianXiao Li ◽  
CHENYU SUN ◽  
CHENG CE ◽  
Xu Hua ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Recombinant Human Growth Hormone ◽  
Human Growth ◽  
Deletion Syndrome ◽  
Global Developmental Delay ◽  
Chinese Girl ◽  
Number Variation ◽  
Second Generation Sequencing ◽  
Alternative Choice ◽  
22Q13.3 Deletion Syndrome

Abstract Background: Phelan-McDermid syndrome (PMS), also known as 22q13.3 deletion syndrome, is a rare neurodevelopmental syndrome resulting from a deletion of the distal long arm of chromosome 22. Case presentation: We report a case of a 21 months old Chinese girl presenting with global developmental delay, absence of speech, unable to understand a few words or walk independently, insomnia, and autism-like behaviors. Second-generation sequencing and copy number variation analysis showed a heterozygous loss of SHANK3 gene in the 22q13 region, consistent with a diagnosis of PMS. After treatment with recombinant human growth hormone (rhGH), this patient had an improvement in motor skills and social behaviors. No side effects from rhGH therapy were reported. Conclusions: This is the first report of using rhGH to treat a Chinese girl diagnosed with PMS. We speculate rhGH could be a reasonable alternative choice for PMS treatment with similar clinical outcomes in comparison to insulin-like growth factor-1(IGF-1). However, further clinical trials are needed to confirm this hypothesis.

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