Two Patients with X Chromosome Duplication: dupXp and dupXq

the past hospitalization and its association with suicide attempts and ideation in patients with mdd and comparison with bmd (depressed type) group

چکیده ندارد.

Chromosome Duplication (14q) and The Genotype Phenotype Correlation

Glomerulopathy in patients with distal duplication of chromosome 6p.

BACKGROUND Duplication of the distal part of chromosome 6p is a rare genetic syndrome. Renal involvement has been reported in the majority of patients, including a wide range of congenital abnormalities of kidney and urinary tract and, occasionally, a proteinuric glomerulopathy. CASE PRESENTATION Here, we report a 13-year-old girl with 6p25.3p22.1 duplication who presented with proteinuria in...

Inherited partial X chromosome duplication in a mentally retarded male.

A mentally retarded male patient with a structurally abnormal X chromosome is reported (karyotype 46, dir dup (X)(p11.2 leads to p21.2)Y). In the normal mother a similar X chromosome duplication was found, which was preferentially inactivated. Xg blood groups were studied in the family. The findings indicated that recombination took place at maternal meiosis, as both karyotypically normal sons ...

X Chromosome Inactivation in Opioid Addicted Women

Introduction: X chromosome inactivation (XCI) is a process during which one of the two X chromosomes in female human is silenced leading to equal gene expression with males who have only one X chromosome. Here we have investigated XCI ratio in females with opioid addiction to see whether XCI skewness in women could be a risk factor for opioid addiction. Methods: 30 adult females meeting DS...