Constitutional Ring |
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Somatic Ring |
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Simple ring
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Complex ring
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Compound ring
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Double minute
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Giant ring
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Cases of Ring Chromosome
18
ALL
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There are 8 cases now, 10 cases/page. Page.1/1
Pages: [1]
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Case No. | Gender | Age | Cytogenomic findings | Major clinical feature | Inheritance |
cRC-18-00000 | male | 0 | mos 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)x1 | ventriculomegaly by ultrasound, microcephaly, dysmorphic facial features, simian crease, broad hands, tapered fingers, clubfeet, micropenis, hypotonia, ventricular septal defect | n/a |
cRC-18-00092 | female | 7 | 46, XX, r(18)(p11.31q23), arr(18)(p11.31)(1-3,881,565 )x1, arr(18)(q23)(73,239,237-78077248)x1 | hypothyroidism(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-18-00057 | female | 0 | 46,XX,r(18)(p11.3q23) | developmental delay, slow reflex
| n/a
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cRC-18-00056 | female | 6 | 46,XX,r(18) | developmental delay, hyperactivity, speech difficulty, growth hormone deficiency, dysmorphic facial features, effective growth hormone treatment for 16m and 7m | De novo |
cRC-18-00055 | female | 4 | mos 46,XY,r(18)(p11q23)[31]/46,XY,r(18)var[8]/45,XY,-18[10] | developmental delay, intellectual disability, speech delay, difficulty in walking | De novo |
cRC-18-00054 | male | 0 | 46,XY,r(18) | developmental delay, intellectual disability, dysmorphic facial features, cannot flip, sit and catch | De novo |
cRC-18-00053 | male | 6 | mos 46,XY,r(18)(p11q23)[92]/46,XY,r(18)var[8] | intellectual disability, microcephaly,
| De novo |
cRC-18-00052 | female | 8 | 46,XY,r(18)(p11q23) | intellectual disability, dysmorphic facial features | De novo |
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Summary |
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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 |
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The more summary of the chromosome is not available yet. |
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