--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    ALL
SEARCH RESULTS: 9 cases were found about "array-cgh", 10 cases/page. Page. 1/1  Pages: [1]

Case No.GenderAgeCytogenomic findingsMajor clinical featureInheritance
cRC-9-00031male0mos 46,XY,r(9)(p23p34)[96]/45~47,r(9)var[9], arr 9p24.3p23(174201-9721761)x1developmental delay, dysmorphic facial features, ambiguous genitaliade novo
cRC-6-00028male0mos 46,XY,r(6)[14]/46,XY,r(6)var[1]/45,XY,-6[15], arr 6p25.3p25.2(255350_2680637)x1,6q26q27(163050344_170890108)x1increased risk for down syndrome by prenatal screening, microcephalyde novo
cRC-6-00029female1mos 46,XX,r(6)/46~47,XX,r(6)var/45,XX,-6, arr 6p25.3p25.1(255359_5695486)x1,6q27(170726737_170890108)x1developmental delay, microcephaly, dysmorphic facial featuresde novo
cRC-15-00089male846,XY,r(15), arr 15q26.3(99689349_100282878)x1developmental delay, short statureDe novo
cRC-2-00096male046,XY,r(2)(p25.3q37.3), arr 2p25.3(0-3327081)x1,2q37.3(238633185-243055144)x1intrauterine growth restriction, microcephaly, and lissencephaly by ultrasoundDe novo
cRC-18-00000male0mos 46,XY,r(18)(p11.21q21.2)[81]/46,XY,idic r(18)/45,XY,-18[3]/46,XY[13], arr 18p11.32p11.21(0_14941330)x1,18q21.2q23(46533430_76117153)x1ventriculomegaly by ultrasound, microcephaly, dysmorphic facial features, simian crease, broad hands, tapered fingers, clubfeet, micropenis, hypotonia, ventricular septal defectn/a
cRC-13-00101male0Amniocytes: mos 46,XY,r(13)[50]/45,XY,-13[23]; FISH: r(13):-13:idic r(13) as 85%:13%:2%; arr[hg19] 13q34(110944977_115169878)×1; cord blood: mos 46,XY,r(13)[91]/46,XY,idic r(13)[6]/45,XY,-13[3]; POC: mos 46,XY,mar(13)[31]/45,XY,-13[3]; arr 13q13.3q34(37360000_115170000)x1maternal anxiety, down syndrome risk of 1/650 derived from second-trimester maternal serum screening De novo
cRC-13-00102female1346,XX,r(13)(p13q34)[71]/46~47,XX,r(13)var[11]/45,XX-15[12]/46,XX,-13,+mar[5]/46,XX[1], arr 13q34(109743729_144110721)x1intellectual disability, developmental delay, dysmorphic facial features, microcephaly, hearing impairment, prolonged prothrombin timeDe novo
cRC-21-00109male0mos 46,XY,r(21)[15]/45,XY,-21[5], arr 21q21.1q21.2(21495262_23580815)x1,21q22.3(41887412_46914715)x1abnormal prenatal ultrasound findings: intrauterine growth restriction, dolichocephaly, prominent forehead and nasal bridge, micrognathia, termination of pregnancyDe novo

Case search:    Keyword:
Summary
 

Figure.1 The relative frequency in ring chromosomes case(s) of "array-cgh" (the number in bracket is the count of the chromosome)

Figure.2 The gender distribution ring chromosome case(s) of "array-cgh"

 
Figure.3 The age distribution of ring chromosome cases associated with " array-cgh ".
 
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:1,988.770 mS.
Since 5/1/2017 01:00 Am,this is the  Views.