Search results
Results from the WOW.Com Content Network
18p-, also known as monosomy 18p, deletion 18p syndrome, del(18p) syndrome, partial monosomy 18p, or de Grouchy syndrome 1, is a genetic condition caused by a deletion of all or part of the short arm (the p arm) of chromosome 18. It occurs in about 1 of every 50,000 births.
1p36 deletion syndrome: 1 D 1:7,500 1q21.1 deletion syndrome: 1q21.1 D 2q37 deletion syndrome: 2q37 D 5q deletion syndrome: 5q D 5,10-methenyltetrahydrofolate synthetase deficiency: MTHFS [2] 7p22.1 microduplication syndrome: 7p22.1 17q12 microdeletion syndrome: 17q12 [3] [4] 1:14,000-62,500 17q12 microduplication syndrome: 17q12 [5] 18p ...
The following are some of the gene count estimates of human chromosome 18. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction).
Monosomy is a form of aneuploidy with the presence of only one chromosome from a pair. [1] Partial monosomy occurs when a portion of one chromosome in a pair is missing. Human monosomy
Tetrasomy 18p is a genetic condition that is caused by the presence of an isochromosome composed of two copies of the short arm of chromosome 18 in addition to the two normal copies of the chromosome. It is characterized by multiple medical and developmental concerns.
Heart abnormalities are present in 25–35% of people with distal 18q-. The majority of these defects are septal. Congenital orthopedic anomalies are also relatively common, particularly rocker-bottom feet or clubfoot.
1p36 deletion syndrome; 2p15-16.1 microdeletion syndrome; 2q37 monosomy; 3p deletion syndrome; 3q29 microdeletion syndrome; 9q34.3 deletion syndrome; 10q26 deletion; 16p11.2 deletion syndrome; 17q12 microdeletion syndrome; 18p-22q11.2 distal deletion syndrome; 22q13 deletion syndrome
Isochromosome 18p syndrome, [5] also termed tetrasomy 18p, is a birth disorder associated with microcephaly (shorter than normal head), small kidneys, cryptorchidism, micropenis, hypospadias (i.e. the penis's urethral opening is mis-located), strabismus, feeding difficulties, neonatal jaundice, kyphosis (excessive convex curvature of the spine ...