Prenatal diagnosis and follow up of a child with a complex chromosome rearrangement.
نویسندگان
چکیده
A case of de novo, apparently balanced, three way exchange by translocation plus a pericentric inversion is described. The karyotype is 46,XX,t(6;11)(p21;q21),t(11;21) (q21;p13),inv(6)(p21q11) and was ascertained through second trimester amniocentesis. The structural rearrangements appear balanced. The child was phenotypically normal at birth. Growth and motor development were normal until 30 months, at which time linear growth dropped below the 5th centile. In addition, there was delayed speech development at 2 years of age. As far as we can determine, this is the first report of a three chromosome exchange including a pericentric inversion ascertained through genetic amniocentesis.
منابع مشابه
Prenatal diagnosis of complex rearrangement of chromosome 21: The significance of interphase and metaphase fluorescence in situ hybridization and comparative genomic hybridization
KEY CLINICAL MESSAGE Maternal serum screening-positive patient had prenatal diagnosis with amniotic fluid, which showed inconsistent results between interphase fluorescence in situ hybridization (three signals of 21q22.13-21q22.2) and G-banding analysis (46,XY). Further analyses proved that the fetus had extremely complex rearrangements of chromosome 21, including the interstitial duplication o...
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OBJECTIVE To assess the postnatal clinical manifestation of an antenatally detected unbalanced rearrangement involving chromosome 13 in an ethnic South Indian couple. METHODS We used conventional cytogenetics on fetal cells obtained from prenatal specimens and on peripheral blood lymphocytes from consanguineous family members to ascertain the chromosomal abnormalities. RESULTS We report the...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 23 2 شماره
صفحات -
تاریخ انتشار 1986