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A Case Database of Human Ring Chromosome
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Cases of Ring Chromosome 13    ALL

There are 16 cases now, 10 cases/page. Page.1/2  Pages: [1] [2]

Case No.GenderAgeCytogenomic findingsMajor clinical featureInheritance
cRC-13-00104male5mos 46,XY[.35]/46,XY,r(13)[.61]/46,XY,dic r(13)[.04]intellectual disability, microcephaly, bilateral cataracts, hearing impairment, hypospadia with microphallusn/a
cRC-13-00103female0mos 46,XX,r(13)(p11q32)[17]/45,XX,-13[5]prenatal ultrasound: intrauterine growth restriction, anencephaly, termination of pregnancyDe 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-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-13-00087male147,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-13-00039female0mos 46,XX,r(13)[.59]/46,XX,r(13)var[.38]/45,XX,-13[.03]intrauterine growth restriction, low birth weight, dysmorphic facial featuresn/a
cRC-13-00038female30mos 46,XX,der (6)t(6:13)(p25;q14),r(13)(p13q14)/46,XX,der(6)t(6;13),dic r(13)infertility, normal physical and mental appearance, normal external genitalia, referred by perinatal infant death at day 10, infant showed polydactyly, cleft lip, congenital heat defectParental n/a, no familial history of abortions
cRC-13-00037male0mos 46,XX,r(13)(p13q34)[81]/46~47,XX,r(13)var[13]/45,XX,-13[6] developmental delay, intellectual disability, microcephaly, hypotonia, dysmorphic facial features, epilepsyParental denial
cRC-13-00036female7mos 46,XX,r(13)[91]/45,XX,-13[9]developmental delay, intellectual disability, dysmorphic facial feature, microcephaly, speech difficultyDe novo
cRC-13-00035female12mos 46,XX,r(13)[81]/46~47,XX,r(13)var[3]/45,XX,-13[6]developmental delay, intellectual disability, dysmorphic facial features, turner-like webbed neckNT

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Figure.1 The frequency of symptoms in case(s) of ring chromosome  13

Figure.2 The gender distribution in case(s) of ring chromosome 13

The more summary of the chromosome is not available yet.
This page was last updated at:  2023-03-22 15:33:01 . Page execution time:265.625 mS.
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