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A Case of Partial Trisomy 13 Findings with 46,XX,der(7)t(7;13)(p22;q31)mat Karyotype
Trisomy 13 translocation partial trisomy
2009/6/30
Authors have shown that the trisomy of the distal part of chromosome 13 is related to different clinic findings than cases with classic trisomy 13 (1,2). They reported that different trisomic segments...
Prenatal Diagnosis of a Trisomy 13 Case Associated with Holoprosencephaly by Ultrasonography and Quantitative Fluorescent PCR
Aneuploidies holoprosencephaly QF-PCR prenatal diagnosis trisomy 13 ultrasonography
2009/6/22
Trisomy 13, first described by Patau in 1960 (1),occurs in 1/5000 of births and is the most severe of the autosomal trisomies (2). Common features of trisomy 13 include holoprosencephaly with midfacia...
Linear and Whorled Nevoid Hypermelanosis in Trisomy 13
Linear and whorled nevoid hypermelanosis trisomy 13
2009/5/21
Linear and whorled nevoid hypermelanosis (LWNH) is a reticulate pigmentary disorder with a sporadic occurrence, generally representing a genetic mosaicism. In this case, we describe a two-month-old gi...