MAOA/B deletion syndrome in male siblings with severe developmental delay and sudden loss of muscle tonus

2014 ◽  
Vol 36 (1) ◽  
pp. 64-69 ◽  
Author(s):  
Mari Saito ◽  
Takanori Yamagata ◽  
Ayumi Matsumoto ◽  
Yusuke Shiba ◽  
Masako Nagashima ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Deletion Syndrome ◽  
Muscle Tonus ◽  
Sudden Loss

Chromosome r(3)(p25.3q29) in a Patient with Developmental Delay and Congenital Heart Defects: A Case Report and a Brief Literature Review

2016 ◽  
Vol 148 (1) ◽  
pp. 6-13
Author(s):  
Kaihui Zhang ◽  
Fengling Song ◽  
Dongdong Zhang ◽  
Yong Liu ◽  
Haiyan Zhang ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Ring Chromosome ◽  
Deletion Syndrome ◽  
Facial Features ◽  
Whole Genome Microarray ◽  
Available Information ◽  
3P Deletion Syndrome

Ring chromosome 3, r(3), is an extremely rare cytogenetic abnormality with clinical heterogeneity and only 12 cases reported in the literature. Here, we report a 1-year-old girl presenting distinctive facial features, developmental delay, and congenital heart defects with r(3) and a ∼10-Mb deletion of chromosome 3pterp25.3 (61,891-9,979,408) involving 42 known genes which was detected using G-banding karyotyping and CytoScan 750K-Array. The breakpoints in r(3) were mapped at 3p25.3 and 3q29. We also analyzed the available information on the clinical features of the reported cases with r(3) and 3p deletion syndrome in order to provide more valuable information of genotype-phenotype correlations. To our knowledge, this is the largest detected fragment described in r(3) cases and the second r(3) study using whole-genome microarray.

scholarly journals Disruption of Contactin 4 (CNTN4) Results in Developmental Delay and Other Features of 3p Deletion Syndrome

2008 ◽  
Vol 82 (6) ◽  
pp. 1385 ◽  
Author(s):  
Thomas Fernandez ◽  
Thomas Morgan ◽  
Nicole Davis ◽  
Ami Klin ◽  
Ashley Morris ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Deletion Syndrome ◽  
3P Deletion Syndrome

A case of developmental delay by 18q23 deletion syndrome

2020 ◽  
Author(s):  
Catarina Chaves ◽  
Mariana Martinho ◽  
Carla Brandão ◽  
Catarina Rodrigues ◽  
Filipe Cunha ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Deletion Syndrome

scholarly journals Disruption of Contactin 4 (CNTN4) Results in Developmental Delay and Other Features of 3p Deletion Syndrome

2004 ◽  
Vol 74 (6) ◽  
pp. 1286-1293 ◽  
Author(s):  
Thomas Fernandez ◽  
Thomas Morgan ◽  
Nicole Davis ◽  
Ami Klin ◽  
Ashley Morris ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Deletion Syndrome ◽  
3P Deletion Syndrome

Ring Chromosome 9 and Chromosome 9p Deletion Syndrome in a Patient Associated with Developmental Delay: A Case Report and Review of the Literature

2016 ◽  
Vol 148 (2-3) ◽  
pp. 165-173 ◽  
Author(s):  
Aswini Sivasankaran ◽  
Murthy K. Kanakavalli ◽  
Deenadayalu Anuradha ◽  
Chandra R. Samuel ◽  
Lakshmi R. Kandukuri
Keyword(s):  
Developmental Delay ◽  
Heart Defects ◽  
Ring Chromosome ◽  
Chromosome 9 ◽  
Deletion Syndrome ◽  
Chromosomal Microarray ◽  
Facial Dysmorphism ◽  
Chromosomal Microarray Analysis ◽  
Ring Chromosomes ◽  
Normal Fish

Ring chromosomes have been described for all human chromosomes and are typically associated with physical and/or mental abnormalities resulting from a deletion of the terminal ends of both chromosome arms. This report describes the presence of a ring chromosome 9 in a 2-year-old male child associated with developmental delay. The proband manifested a severe phenotype comprising facial dysmorphism, congenital heart defects, and seizures. The child also exhibited multiple cell lines with mosaic patterns of double rings, a dicentric ring and loss of the ring associated with mitotic instability and dynamic tissue-specific mosaicism. His karyotype was 46,XY,r(9)(p22q34)[89]/46,XY,dic r(9; 9)(p22q34;p22q34)[6]/45, XY,-9[4]/47,XY,r(9),+r(9)[1]. However, the karyotypes of his parents and elder brother were normal. FISH using mBAND probe and subtelomeric probes specific for p and q arms for chromosome 9 showed no deletion in any of the regions. Chromosomal microarray analysis led to the identification of a heterozygous deletion of 15.7 Mb from 9p22.3 to 9p24.3. The probable role of the deleted genes in the manifestation of the phenotype of the proband is discussed.

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 Chromosome 15 structural abnormalities: effect on IGF1R gene expression and function

2017 ◽  
Vol 6 (7) ◽  
pp. 528-539 ◽  
Author(s):  
Rossella Cannarella ◽  
Teresa Mattina ◽  
Rosita A Condorelli ◽  
Laura M Mongioì ◽  
Giuseppe Pandini ◽  
...  
Keyword(s):  
Gene Expression ◽  
Protein Expression ◽  
Developmental Delay ◽  
Fold Increase ◽  
Psychomotor Retardation ◽  
Deletion Syndrome ◽  
Chromosome 15 ◽  
15Q Duplication ◽  
Structural Abnormalities ◽  
And Function

Insulin-like growth factor 1 receptor (IGF1R), mapping on the 15q26.3 chromosome, is required for normal embryonic and postnatal growth. The aim of the present study was to evaluate the IGF1R gene expression and function in three unrelated patients with chromosome 15 structural abnormalities. We report two male patients with the smallest 15q26.3 chromosome duplication described so far, and a female patient with ring chromosome 15 syndrome. Patient one, with a 568 kb pure duplication, had overgrowth, developmental delay, mental and psychomotor retardation, obesity, cryptorchidism, borderline low testis volume, severe oligoasthenoteratozoospermia and gynecomastia. We found a 1.8-fold increase in the IGF1R mRNA and a 1.3-fold increase in the IGF1R protein expression (P < 0.05). Patient two, with a 650 kb impure duplication, showed overgrowth, developmental delay, mild mental retardation, precocious puberty, low testicular volume and severe oligoasthenoteratozoospermia. The IGF1R mRNA and protein expression was similar to that of the control. Patient three, with a 46,XX r(15) (p10q26.2) karyotype, displayed intrauterine growth retardation, developmental delay, mental and psychomotor retardation. We found a <0.5-fold decrease in the IGF1R mRNA expression and an undetectable IGF1R activity. After reviewing the previously 96 published cases of chromosome 15q duplication, we found that neurological disorders, congenital cardiac defects, typical facial traits and gonadal abnormalities are the prominent features in patients with chromosome 15q duplication. Interestingly, patients with 15q deletion syndrome display similar features. We speculate that both the increased and decreased IGF1R gene expression may play a role in the etiology of neurological and gonadal disorders.

22q11 Deletion Syndrome and Limb Anomalies: Report on Two Brazilian Patients

2008 ◽  
Vol 45 (5) ◽  
pp. 561-566 ◽  
Author(s):  
Nancy Mizue Kokitsu-Nakata ◽  
Maria Leine Guion-Almeida ◽  
Antonio Richieri-Costa
Keyword(s):  
Developmental Delay ◽  
Congenital Heart ◽  
Clinical Signs ◽  
Velopharyngeal Insufficiency ◽  
Deletion Syndrome ◽  
22Q11 Deletion ◽  
22Q11 Deletion Syndrome ◽  
Cardiac Anomalies ◽  
Limb Anomalies ◽  
Chromosome 22Q11

Objective: To report on two Brazilian patients with chromosome 22q11 deletion who presented with velopharyngeal insufficiency, congenital heart anomalies, developmental delay, and limb anomalies. The pattern of limb anomalies in these patients, which range from ectrodactyly to limb synostosis, is very uncommon in 22q11 deletion syndrome. Conclusion: These patients widen the spectrum of clinical signs of the 22q11 deletion syndrome and alert researchers to conduct additional investigation in patients with limb involvement with velopharyngeal insufficiency and/or cardiac anomalies, along with developmental delay.

Sign in / Sign up

Export Citation Format

Share Document