We propose that inv (10) (p11.2q21.2) can be regarded as a variant analogous to the pericentric inversion of chromosome 2 (p11q13). We conclude that prenatal chromosome analysis is not justified for inv (10) carriers.

Using a combination of short‐read whole‐genome sequencing (WGS), 10X Genomics Chromium WGS, droplet digital polymerase chain reaction and array comparative genomic hybridization we investigated the genomic structure of 18 large unique cytogenetically detected chromosomal inversions and achieved nucleotide resolution of at least one chromosomal i...

前面意思是有46条染色体的男性,inv的意思是倒位,后面的括号10是指10号染色体有异常 q11和q23是断点的基因位置,破裂后又倒转后重接形成了一条臂内倒位的染色体

Hypogonadotropic hypogonadism (HH) was diagnosed in a 22-year-old patient with 46,XY,inv(10) karyotype. It may be associated with some gene mutations of chromosome X, (KAL-1: Kallman syndrome; and DAX-1: congenital adrenal hypoplasia), as well as of certain autosomes, including chromosome 10.

2011年1月1日 · A common variant reported for chromosome 10 is a pericentric inversion, i.e. inv(10)(p11.2q21.2) (Fig. 15.1a, b). Collinson MN et al. (Collinson et al., Hum Genet 101:175–180, 1997) studied 33 families with a pericentric inversion of chromosome 10 and reviewed the literature for another 32 families.

2009年2月11日 · We identified a paracentric inversion of chromosome 10 [inv (10) (q11.22q21.1)] in 0.20% of Swedish individuals (15/7,439) referred for cytogenetic analysis. A retrospective analysis of 8,896 karyotypes from amniocenteses in Sweden revealed a carrier frequency of 0.079% (7/8,896) for the inversion.

Our study demonstrates that the inv (10) (q11.22q21.1) is a rare and inherited chromosome variant with a broad geographical distribution in Sweden. We identified a paracentric inversion of chromosome 10 [inv (10) (q11.22q21.1)] in 0.20% of Swedish individuals (15/7,439) referred for cytogenetic analysis.

In this report we present a novel 12 Mb paracentric chromosome variant, inv(10)(q11.22q21.1) identified in karyotypes from both leukocytes and amniocytes. We present here our clinical, cyto-genetic and molecular analysis of this rearrangement.

2003年2月1日 · Hypogonadotropic hypogonadism (HH) was diagnosed in a 22-year-old patient with 46,XY,inv (10) karyotype. It may be associated with some gene mutations of chromosome X, (KAL-1: Kallman syndrome;...

2009年3月1日 · Our study demonstrates that the inv (10) (q11.22q21.1) is a rare and inherited chromosome variant with a broad geographical distribution in Sweden. Sequence analysis of the inv (10)...