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Chromosome Disorders (Chromosome Disorder)

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Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)

Also Known As:

Chromosome Disorder; Disorders, Chromosomal; Chromosomal Disorders; Autosomal Chromosome Disorder; Chromosomal Disorder; Chromosome Abnormality Disorder; Chromosome Disorder, Autosomal; Chromosome Disorders, Autosomal; Disorder, Chromosomal; Disorder, Chromosome; Disorder, Chromosome Abnormality; Disorders, Chromosome; Autosomal Chromosome Disorders; Chromosome Abnormality Disorders

Networked: 139 relevant articles (1 outcomes, 7 trials/studies)

Relationship Network

Disease Context: Research Results

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 668
- Congenital Abnormalities: 15467
  - Chromosome Disorders: 139
- Inborn Genetic Diseases: 842
  - Chromosome Disorders: 139

Related Diseases

1.	Down Syndrome (Down's Syndrome)
2.	Trisomy (Trisomies)
3.	Neural Tube Defects (Exencephaly)
4.	Chromosome Aberrations (Chromosome Abnormalities)
5.	Mental Disorders (Mental Disorder)

Experts

1.	Kuliev, Anver: 9 articles (05/2011 - 11/2002)
2.	Verlinsky, Yury: 8 articles (01/2009 - 11/2002)
3.	Amin, Sanjiv B: 3 articles (10/2014 - 03/2007)
4.	Galhano, Eulália: 2 articles (12/2015 - 08/2011)
5.	Pita, Cristina: 2 articles (12/2015 - 08/2011)
6.	Pinto, Joana: 2 articles (12/2015 - 08/2011)
7.	Almeida, Maria do Céu: 2 articles (12/2015 - 08/2011)
8.	Wistuba, Joachim: 2 articles (03/2015 - 03/2014)
9.	Werler, Steffi: 2 articles (03/2015 - 03/2014)
10.	Gromoll, Jörg: 2 articles (03/2015 - 03/2014)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Chromosome Disorders:

1.	alpha-Fetoproteins (AFP)IBA 10/01/1994 - "First-trimester MS-AFP has no value as a marker for other fetal chromosomal disorders." 10/01/1994 - "We evaluated first-trimester maternal serum alpha-fetoprotein (MS-AFP) as a marker for fetal chromosomal disorders. " 10/01/1994 - "First-trimester maternal serum alpha-fetoprotein as a marker for fetal chromosomal disorders. " 08/01/1991 - "The results indicate that low maternal serum AFP in pregnancies with fetal chromosomal disorders could result from an impaired fetal kidney function as well as from impaired membrane or placental passage of AFP, rather than from reduced fetal AFP production." 01/01/1990 - "Low maternal serum AFP (MSAFP) values in the first trimester of pregnancy have been associated with an increased risk for chromosome disorders. "
2.	Biological Markers (Surrogate Marker)IBA 12/01/2015 - "Impact of fetal chromosomal disorders on maternal blood metabolome: toward new biomarkers?" 09/01/1998 - "[The biochemical marker dynamics of the maternal serum in different chromosomal disorders of the fetus]." 12/01/2015 - "This study aimed at determining the relationship between fetal chromosomal disorders (CDs), including trisomy 21 (T21), and on first- and second-trimester maternal blood plasma, to identify the time-course metabolic adaptations to the conditions and the possible new plasma biomarkers. " 04/01/2014 - "Abnormalities in maternal serum marker levels and fetal measurements obtained during the first trimester screening can be a marker not only for certain chromosomal disorders and anomalies in the fetus but also for specific pregnancy complications. " 10/01/2015 - "Chromosomal disorders have a combined frequency of 1 in 153 births, therefore screening for chromosomal disorders is essential, using biochemical markers, ultrasonography, and recently by non-invasive prenatal diagnosis based on cell-free fetal DNA in maternal plasma. "
3.	DNA ProbesIBA 01/01/2005 - "Between 80 and 95% of all chromosomal disorders expected in the second trimester of pregnancy can be discovered within 24 hr if DNA probes specific for chromosomes 21, 18, 13, X, and Y are used. " 01/01/2000 - "Specific DNA probes allow rapid prenatal diagnosis of numerical chromosome disorders (chromosomes 13, 18, 21, X, Y) by FISH on interphase nuclei. " 01/01/2001 - "Molecular cytogenetic and cytogenetic studies of chromosomal disorders in patients with nervous and mental disorders were conducted using currently available approaches, including fluorescence in situ hybridization (FISH) with an original collection of centromeric, telomeric, region-specific DNA probes. "
4.	Growth Hormone (Somatotropin)IBA 10/01/1992 - "This report presents data on postnatal growth, growth hormone (GH) secretion and GH-therapy in children with short stature after IUGR, which was not based on a chromosomal disorder or a syndrome, with exception of Silver-Russell Syndrome (SRS). " 09/01/1998 - "In the present study, we determined circulating serum levels of human placental growth hormone (hPGH) and insulinlike growth factor binding proteins 1 and 3 (IGFBP-1 and IGFBP-3) using two-site radioimmunoassays during the gestational midtrimester of pregnancies affected by chromosomal disorders with the aim of identifying potential marker substances that might have a significant discriminative and predictive value for prenatal diagnosis of fetal chromosomal aberrations and of organ malformations such as neural-tube defect. "
5.	First StepIBA 03/01/1995 - "This study provides the first step for further epidemiological surveys of Down's syndrome in the Kingdom of Saudi Arabia in order to prepare the ground for an effective antenatal screening programme for chromosomal disorders." 11/01/2012 - "To evaluate the contribution made by fetal echocardiography in identifying Down's syndrome (DS) and other chromosomal disorders in a stepwise sequential screening method (first step: combined test (CT), second step: modified genetic sonography (MGS) (major malformation and nuchal fold)), for DS in the general population of pregnant women. "
6.	Carrier Proteins (Binding Protein)IBA 09/01/1998 - "In the present study, we determined circulating serum levels of human placental growth hormone (hPGH) and insulinlike growth factor binding proteins 1 and 3 (IGFBP-1 and IGFBP-3) using two-site radioimmunoassays during the gestational midtrimester of pregnancies affected by chromosomal disorders with the aim of identifying potential marker substances that might have a significant discriminative and predictive value for prenatal diagnosis of fetal chromosomal aberrations and of organ malformations such as neural-tube defect. "
7.	Male sterility due to Y-chromosome deletionsIBA 06/01/2013 - "The present study shows that the total prevalence of genetic abnormalities is 28.41 %, including 184 patients (20.91 %) with chromosome disorder and 66 patients (7.5 %) with Y chromosome microdeletions. "
8.	Prostaglandins D (PGD)IBA 11/01/2014 - "Karyomapping is potentially capable of detecting a wide spectrum of monogenic and chromosome disorders and, in this context, can be considered a comprehensive approach to PGD. " 11/01/2014 - "Live birth after PGD with confirmation by a comprehensive approach (karyomapping) for simultaneous detection of monogenic and chromosomal disorders." 05/01/2011 - "PB-based approach has presently been utilized in PGD for genetic and chromosomal disorders, applied either separately, or together with embryo biopsy approaches, especially if there are two or more PGD indications. " 06/01/2009 - "To investigate the role of sperm fluorescence in situ hybridization (FISH) in preimplantation genetic diagnosis (PGD) for male chromosomal disorders. " 01/01/2009 - "The authors' centre has one of the largest repositories of hESC lines with genetic and chromosomal disorders generated from preimplantation genetic diagnosis (PGD) abnormal embryos. "
9.	DNA (Deoxyribonucleic Acid)IBA 02/01/2015 - "Chromosome disorders, the overall level of DNA cells single-stranded damage by comet-assay method and a method of level detection of buccal micronuclei in were investigated. " 01/01/2015 - "Positive predictive value of non-invasive prenatal screening for fetal chromosome disorders using cell-free DNA in maternal serum: independent clinical experience of a tertiary referral center." 07/01/2005 - "We developed a microarray for clinical diagnosis of chromosomal disorders using large insert genomic DNA clones as targets for comparative genomic hybridization (CGH). " 03/01/1994 - "Genetic analysis of biopsied gametes and blastomeres is now possible by DNA analysis, while enzyme analysis and preimplantation diagnosis of chromosomal disorders are still at the research stage. " 06/01/2002 - "Recent advances in assisted reproduction may circumvent natural conception barriers and the implications of impaired DNA integrity may be manifest as an increased risk of congenital abnormalities and chromosomal disorders in the offspring. "
10.	Patau syndromeIBA 09/01/2014 - "Trisomy 13, or Patau syndrome, is a chromosomal disorder that can occur in complete, partial, or mosaic forms. " 01/01/2014 - "Trisomy 13 is a chromosomal disorder characterized by a severe clinical picture of multiple congenital anomalies. " 06/01/2013 - "Trisomy 13 or Patau syndrome (PS) is a chromosomal disorder characterized by a well known presentation of multiple congenital anomalies. " 11/01/2010 - "Trisomy 13 is a severe chromosomal disorder, with various complications. " 03/01/2010 - "Patau syndrome is a chromosomal disorder associated with multiple malformations caused by inheritance of an extra chromosome (trisomy 13). "

Therapies and Procedures

1.	Multifetal Pregnancy Reduction 04/01/1995 - "The rate of chromosomal disorders was higher (7.2%) in the study series than in singleton pregnancies not undergoing fetal reduction. "
2.	Parenteral Nutrition 05/15/2012 - "Their etiologies included parenteral nutrition-associated cholestasis (PNAC), infection, biliary tract disorders, congenital abnormalities and chromosomal disorders, metabolic diseases, others (prenatal hypoxia, post unconjugated hyperbilirubinemia, neonatal lupus and congenital chylothorax) and unknown reasons. "
3.	Hyperbaric Oxygenation 07/01/1983 - "[Chromosome disorders in the bone marrow cells of rats subjected to hyperbaric oxygenation]."
4.	Induced Abortion (Induced Abortions) 12/01/1997 - "Neural tube defects (NTDs) were recognized in eight out of 91 intact embryos from spontaneous abortions and in one case of an induced abortion following prenatal diagnosis of a chromosomal disorder. "
5.	Eugenic Abortion (Selective Abortion) 02/03/1998 - "Prenatal diagnosis (PD) provides the physician information on whether the unborn fetus has a genetic or chromosomal disorder, and offers patients a new option: selective abortion. "