--Welcome to Website of Human Ring Chromosome!--


A Case Database of Human Ring Chromosome
    Language: English/Chinese
    Version 1.0000  
 

 

Keyword:

 

 
HOME
 ADMIN & SUBMISSION

CHROMOSOME SPECIFIC CASES

RESOURCES GLOSSARY
Chromosome Specific
 >> Chromosome Specific Cases

Constitutional Ring
  
Simple/Complex Ring
1 2 3 4
5 6 7 8
9 10 11 12
13 14 15 16
17 18 19 20
21 22 X Y

Compound Ring
 
Somatic Ring
  
Simple ring
Complex ring
Compound ring
Double minute
Giant ring
 

 

Cases of Ring Chromosome

There are 112 cases now, 10 cases/page. Page.3/12  Pages: [1] [2] [3] [4] [5] [>] [>|]

Case No.GenderAgeCytogenomic findingsMajor clinical featureInheritance
cRC-X-00095female0mos r(X)premature ovarian failuren/a
cRC-22-00094female946,XX,r(22)(p11q13), arr[hg19] 22q13.31q13.33(47377174_51183871)x1developmental delay, severe autism, dysmorphic facial features, hypotoniaDe novo
cRC-18-00092female746, XX, r(18)(p11.31q23), arr(18)(p11.31)(1-3,881,565 )x1, arr(18)(q23)(73,239,237-78077248)x1hypothyroidism(at 2y), short stature, intellectual disability, hypoactive, hypotonia, dysmorphic facial features, abnormal thyroid function, pituitary dysplasia(by mri), both kidneys were smaller(by ultrasound). De novo
cRC-15-00090male1246,XY,r(15)(p13q26)developmental delay, intellectual disability, microcephalyParental denial
cRC-15-00089male846,XY,r(15), arr 15q26.3(99689349_100282878)x1developmental delay, short statureDe novo
cRC-13-00087male147,XYY,r(13)(p11q34), arr 13q33.2q34(104865782_113948665)× 1 intellectual disability, developmental delay, microcephaly, dysmorphic facial features, bilateral severe sensorineural hearing loss, corpus callosum hypoplasia, cerebral white matter abnormality, speech difficulty, microorchidism, hypospadias De novo
cRC-11-00086female546,XX,r(11)(p15.5q25)[27]/45,XX,-11[3]developmental delay, wilms’ tumor De novo
cRC-3-00085female0mos 46,XX,r(3)(p26q29)[90]/47,XX,-3,+2r[5]/46,XX,der(3)(p24q29)[5], arr 3p26.3p25.3(61891_9979408)x1developmental delay, congenital heart defect, microcephaly, dysmorphic facial features, hypotoniaDe novo
cRC-15-00084female046,XX,r(15)(p11q26)developmental delay, slow reflex n/a
cRC-9-00083female046,XX,r(9)n/an/a

Case search:    Keyword:
Summary
Figure.1 The relative frequency of ring chromosome cases (the number in bracket is the count of the chromosome)

 

 

Figure.2 The frequency of symptoms in   112  ring chromosome cases

Figure.3 The gender distribution in   112  ring chromosome cases

 
Figure.4 The age distribution of  112  ring chromosome cases
 
The more summary of the chromosome is not available yet.
Disclaimer
DISCLAIMER SITE MAP FEEDBACK   ABOUT US
This page was last updated at:  2023-03-22 15:33:01 . Page execution time:234.375 mS.
Since 5/1/2017 01:00 Am,this is the  Views.