scholarly journals Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2

2009 ◽  
Vol 149A (2) ◽  
pp. 129-137 ◽  
Author(s):  
Anna Rajab ◽  
Kimberly A. Aldinger ◽  
Hisham Ali El-Shirbini ◽  
William B. Dobyns ◽  
M. Elizabeth Ross
Keyword(s):  
Developmental Delay ◽  
Chromosome 2 ◽  
Small Stature

Obesity and developmental delay in a patient with uniparental disomy of chromosome 2

2016 ◽  
Vol 40 (12) ◽  
pp. 1935-1941 ◽  
Author(s):  
T Yu ◽  
J Li ◽  
N Li ◽  
R Liu ◽  
Y Ding ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Uniparental Disomy ◽  
Chromosome 2

scholarly journals Case Report: Complete Maternal Uniparental Disomy of Chromosome 2 With a Novel UNC80 Splicing Variant c.5609-4G> A in a Chinese Patient With Infantile Hypotonia With Psychomotor Retardation and Characteristic Facies 2

2021 ◽  
Vol 12 ◽  
Author(s):  
Yilun Tao ◽  
Dong Han ◽  
Yiju Wei ◽  
Lihong Wang ◽  
Wenxia Song ◽  
...  
Keyword(s):  
Case Report ◽  
Developmental Delay ◽  
Autosomal Recessive ◽  
Snp Array ◽  
Uniparental Disomy ◽  
Psychomotor Retardation ◽  
Chinese Patient ◽  
Global Developmental Delay ◽  
Chromosome 2 ◽  
Splicing Variant

Background: Infantile hypotonia with psychomotor retardation and characteristic facies 2 (IHPRF2) is a rare autosomal recessive neurodevelopmental disorder caused by mutations in the UNC80 gene. It is characterized by severe global developmental delay, poor or absent speech and absent or limited walking abilities. The current study explored a case of a Chinese patient with IHPRF2 caused by a novel splicing variant of UNC80.Case Report: The proband is a 8-year-old Chinese male manifested with global developmental delay, severe truncal hypotonia, absent speech and intellectual disability. SNP array analysis revealed a uniparental isodisomy of the entire chromosome 2 [UPD(2)] in the proband. Whole exome sequencing (WES) subsequently identified a novel mutation c.5609-4G>A in the UNC80 gene, which was inherited from his mother and was confirmed by Sanger sequencing, indicating that UPD(2) was of maternal origin.Conclusion: A novel UNC80 homozygous splicing variant c.5609-4G>A associated with maternal UPD(2) was identified. These findings indicate that UPD poses a high risk of autosomal recessive diseases, and provides information on the variant spectrum for UNC80. Our findings elucidate on understanding of the genotype-phenotype associations that occur in IHPRF2 patients.

Clinical Correlation of Chromosome 22q11.2 Fluorescent in Situ Hybridization Analysis and Velocardiofacial Syndrome

2007 ◽  
Vol 44 (1) ◽  
pp. 62-66 ◽  
Author(s):  
Albert K. Oh ◽  
Laura A. Workman ◽  
Granger B. Wong
Keyword(s):  
Cleft Palate ◽  
Developmental Delay ◽  
Clinical Features ◽  
Fluorescent In Situ Hybridization ◽  
Velocardiofacial Syndrome ◽  
Fish Analysis ◽  
Small Stature ◽  
Chromosome 22Q11.2 ◽  
22Q11.2 Microdeletion

Objective: To identify characteristics associated with microdeletions of chromosome 22q11.2 ascertained by fluorescent in situ hybridization (FISH) analysis in patients with velopharyngeal insufficiency (VPI), cleft palate, or other clinical features of velocardiofacial syndrome (VCFS). Design/Setting: Retrospective review of all patients entered at one tertiary-level multidisciplinary cleft lip and palate and craniofacial anomalies panel from January 2000 to December 2003. Patients: The study consisted of 115 patients. The presence or absence of the following clinical features was documented: cleft palate (submucous and overt), VPI, cardiac anomalies, renal anomalies, small stature, characteristic facies, developmental delay, psychiatric dysfunction, and family history. Main Outcome Measure: Correlation between presence or absence of clinical features of VCFS and presence or absence of 22q11.2 microdeletion by FISH analysis. Results: Of the 16 patients (13.9%) who demonstrated 22q11.2 microdeletion by FISH analysis, 16 had VPI (100%), 16 had small stature (100%), 14 had cleft palate (88%), and 13 had characteristic facies (81%). Developmental delay was also present in 13 of these patients (81%), and seven had cardiac anomalies (44%). Multiple regression analysis revealed that the presence of characteristic facies and small stature statistically correlated with microdeletions of chromosome 22q11.2 by FISH studies (p < .05). Conclusions: Patients with microdeletions of chromosome 22q11.2 as demonstrated by FISH analysis were more likely to have VPI, small stature, cleft palate, characteristic facies, and developmental delay, in descending order. Statistical analysis showed that only characteristic facies and small stature correlated with 22q11.2 microdeletions.

Mapping of the prolactin gene to chicken chromosome 2

1999 ◽  
Vol 30 (6) ◽  
pp. 462-478 ◽  
Author(s):  
Y-W Miao ◽  
D W Burt ◽  
I R Paton ◽  
P J Sharp ◽  
I C Dunn
Keyword(s):  
Chromosome 2 ◽  
Chicken Chromosome ◽  
Prolactin Gene

Using parental questionnaires to identify developmental delay

2005 ◽  
Vol 47 (09) ◽  
pp. 646 ◽  
Author(s):  
Alan Emond ◽  
J Clare Bell ◽  
Jon Heron
Keyword(s):  
Developmental Delay
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