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A Case Database of Human Ring Chromosome
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Cases of Ring Chromosome 18    ALL

There are 8 cases now, 10 cases/page. Page.1/1  Pages: [1]

Case No.GenderAgeCytogenomic findingsMajor clinical featureInheritance
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-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-18-00057female046,XX,r(18)(p11.3q23)developmental delay, slow reflex n/a
cRC-18-00056female646,XX,r(18)developmental delay, hyperactivity, speech difficulty, growth hormone deficiency, dysmorphic facial features, effective growth hormone treatment for 16m and 7mDe novo
cRC-18-00055female4mos 46,XY,r(18)(p11q23)[31]/46,XY,r(18)var[8]/45,XY,-18[10]developmental delay, intellectual disability, speech delay, difficulty in walkingDe novo
cRC-18-00054male046,XY,r(18)developmental delay, intellectual disability, dysmorphic facial features, cannot flip, sit and catchDe novo
cRC-18-00053male6mos 46,XY,r(18)(p11q23)[92]/46,XY,r(18)var[8]intellectual disability, microcephaly, De novo
cRC-18-00052female846,XY,r(18)(p11q23)intellectual disability, dysmorphic facial featuresDe novo

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Summary

Figure.1 The frequency of symptoms in case(s) of ring chromosome  18

Figure.2 The gender distribution in case(s) of ring chromosome 18

 
The more summary of the chromosome is not available yet.
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