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Medical genetics. Distal 18q- is a genetic condition caused by a deletion of genetic material within one of the two copies of chromosome 18. [1] The deletion involves the distal section of 18q and typically extends to the tip of the long arm of chromosome 18. [2]
Signs and symptoms. Ring 18 causes a wide range of medical and developmental concerns. [3] As discussed above, people with ring 18 can have features of both distal 18q- and 18p-. The features of distal 18q- and 18p- vary greatly because of the variability of the deletion size and breakpoint locations between people. [4]
Trisomy 18, also known as Edwards syndrome, is a genetic disorder caused by the presence of a third copy of all or part of chromosome 18. Many parts of the body are affected. Babies are often born small and have heart defects.
Proximal 18q-is a rare genetic condition caused by a deletion of genetic material within one of the two copies of chromosome 18. This deletion involves the proximal (near the centromere ) section of the long arm of chromosome 18 somewhere between 18q11.2 (18.9 Mb) to 18q21.1 (43.8 Mb). [1]
Signs and symptoms. Cebocephaly, a form of holoprosencephaly, in a 4-month-old girl with 18p-. 18p- causes a wide range of medical and developmental concerns. There is significant variation in severity. This variation is due to the variability of the deletion size and breakpoints. [2]
Edwards syndrome (trisomy 18) Tetrasomy 18p; Monosomy 18p; Pitt–Hopkins syndrome 18q21; Distal 18q-(distal deletion) Proximal 18q-(proximal deletion) Cytogenetic band
Jacobsen syndrome: Trisomy 11: 12: Trisomy 12: 13: Patau syndrome: 14: Trisomy 14: 15: Angelman syndrome Prader–Willi syndrome: Trisomy 15: 16: Trisomy 16: 17: Miller–Dieker syndrome Smith–Magenis syndrome: Trisomy 17: 18: Distal 18q-Proximal 18q-Edwards syndrome: 19: Trisomy 19: 20: Trisomy 20: 21: Down syndrome: 22: DiGeorge syndrome ...
Jacobsen syndrome is a rare chromosomal disorder resulting from deletion of genes from chromosome 11 that includes band 11q24.1. It is a congenital disorder. Since the deletion takes place on the q arm of chromosome 11, it is also called 11q terminal deletion disorder.
Miller–Dieker syndrome, Miller–Dieker lissencephaly syndrome (MDLS), and chromosome 17p13.3 deletion syndrome is a micro deletion syndrome characterized by congenital malformations. Congenital malformations are physical defects detectable in an infant at birth which can involve many different parts of the body including the brain, hearts ...
Known disorders in humans include Wolf–Hirschhorn syndrome, which is caused by partial deletion of the short arm of chromosome 4; and Jacobsen syndrome, also called the terminal 11q deletion disorder. Duplications: A portion of the chromosome has been duplicated, resulting in extra genetic material.