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The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
Chromosome 16 abnormalities; Chromosome 18 abnormalities; Chromosome 20 abnormalities; Chromosome 22 abnormalities; Cleft lip/palate; Cleidocranial dysostosis; Club foot; Congenital adrenal hyperplasia (CAH) Congenital central hypoventilation syndrome; Congenital diaphragmatic hernia (CDH) Congenital Disorder of Glycosylation (CDG) Congenital ...
Fetal abnormalities are conditions that affect a fetus or embryo, are able to be diagnosed prenatally, and may be fatal or cause disease after birth. They may include aneuploidies, structural abnormalities, or neoplasms. Acardiac twin; Achondrogenesis; Achondroplasia; Adrenal hematoma; Agenesis of the corpus callosum; Amniotic band syndrome ...
A karyotype of an individual with trisomy 21, showing three copies of chromosome 21. An abnormal number of chromosomes is known as aneuploidy, and occurs when an individual is either missing a chromosome from a pair (resulting in monosomy) or has more than two chromosomes of a pair (trisomy, tetrasomy, etc.).
Ring chromosome 14 syndrome is a very rare human chromosome abnormality. It occurs when one or both of the telomeres that mark the ends of chromosome 14 are lost, allowing the now uncapped ends to fuse together – thus forming a ring chromosome. It causes a number of serious health issues. [1] [3] [4]
Triploidy can result from either two sperm fertilizing one egg (60%) or from one sperm fertilizing an egg with two copies of every chromosome (40%). [2] These are otherwise known as diandric fertilization and digynic fertilization. Pregnancies caused by digynic fertilization are more likely to end right before a baby is due for full term.
This category reflects the organization of International Statistical Classification of Diseases and Related Health Problems, 10th Revision. Generally, diseases outlined within the ICD-10 codes Q90-Q99 within Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities should be included in this category.
Temple syndrome is a rare genetic disorder that is caused by mutations in paternal chromosome 14 or by maternal UPD(14). [2] The signs of this syndrome are oligohydramnios, intrauterine growth restriction, small placenta, low birth weight and length, hypotonia, motor and speech delay, joint laxity, clinodactyly, kyphoscoliosis, precocious puberty, obesity and the facial signs are ...