A Case of Partial Trisomy 20p Resulting from Meiotic Recombination of a Maternal Pericentric Inversion
نویسندگان
چکیده
Here we report the cytogenetic and clinical manifestations observed in a patient with a rec(20)dup(20p)inv(20)(p11.2q13.3)mat. The patient was a full-term newborn girl with asymmetric intrauterine growth restriction and multiple congenital malformations, including a ventricular septal defect, pulmonary atresia, ambiguous genitalia, clinodactyly, and sacral dimpling. To our knowledge, this is the 4th report in the world and the 1st one in Korea of a patient with rec(20)dup(20p).
منابع مشابه
A malformed child with a recombinant chromosome 7, rec(7) dup p, derived from a maternal pericentric inversion inv(7)(p15q36).
We report a child with facial dysmorphic features, hypoplasia of the external genitalia, intestinal malrotation, congenital cardiac defect, and minor limb anomalies. Chromosome studies showed a recombinant chromosome 7, rec(7) dup p, resulting from a maternal pericentric inversion inv(7)(p15 q36). Thus, this child had partial trisomy 7p in addition to a small distal monosomy 7. The clinical fin...
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1 Howard-Peebles PN, Stoddard GR. Pericentric inversions of chromosome number 9: benign or harmful. Hum Hered 1979;29:111-7. 2 Leonard C, Hazael-Massieux P, Bocquet L, Larget-Piet L, Boue J. Inversion pericentrique inv(2)(pl1ql3) dans les familles non apparent6es. Hum Genet 1975 ;48 :121-8. 3 van der Linden AGJM, Pearson PL, van de Kamp JJP. Cytological assessment of meiotic exchange in a human...
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عنوان ژورنال:
دوره 32 شماره
صفحات -
تاریخ انتشار 2012