trisomy 13


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Related to trisomy 13: Trisomy 18, Trisomy 8

trisomy 13

n.
The condition of having three copies of chromosome 13 that results in a syndrome characterized by severe congenital malformations including craniofacial and cardiac defects, structural brain abnormalities, and polydactyly. Also called Patau syndrome.
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amp;nbsp;The deformity can either develop from toxins and environmental pollution or due to Trisomy 13, which is associated with harsh intellectual disability and certain physical aberrations in parts of the body.
Joel Lamando Carbonell, and his wife - parents of the one year-old baby, who is suffering from a chromosomal condition called Trisomy 13, have been struggling to find a doctor in the UAE who will operate on their child.
The fetus presented here does not show characteristic trisomy 13 major features.
The noninvasive screen yields results for trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), trisomy 13 (Patau syndrome), as well as certain sex chromosome-related disorders.
The non-invasive screen can uncover whether the foetus has trisomy 21 (Down's syndrome), trisomy 18 (Edwards' syndrome) or trisomy 13 (Patau syndrome), as well as certain sex chromosome-related disorders.
Trisomy 18, Trisomy 13, and related genetic disorders have been routinely labeled "lethal" and "incompatible with life.
The 170 chromosomal abnormalities included trisomy 21 (92 cases, 54%), trisomy 18 (36 cases, 21%), trisomy 13 (13 cases, 8%), and others (29 cases, 17%) (Table 1).
DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as down syndrome: an international collaborative study.
There is abundant evidence to support the efficacy of NIPT, using cfDNA, in screening for trisomies 21 and 18, and to a lesser extent trisomy 13.
Aziz's report of bilateral axillary arch muscle in a case of trisomy 13 and aneuploidy (trisomy 18), the variant AAM, was found along with other supernumerary muscles, a regular feature found in monkeys and great apes.
Cataracts are also evident in syndromes with systemic deformities comprising Trisomy 21, Turner's syndrome, Trisomy 13, Lowes Syndrome, Nance Horan syndrome Marnesco Sjogren syndrome, etc.