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Human chromosome ideograms with label from Human Genome Project (1990-2003) 1 2 3 ... This file contains additional information, probably added from the digital ...
Congenital heart defects, hydronephrosis, omphalocele and meningocele (spina bifida) are also common. Cystic hygromas occur but are uncommon. [citation needed] Triploid fetuses have intrauterine growth restriction beginning early in the pregnancy, as early as 12 weeks, and does not affect the head as severely as the body.
Three chromosomal abnormalities with ISCN nomenclature, with increasing complexity: (A) A tumour karyotype in a male with loss of the Y chromosome, (B) Prader–Willi Syndrome i.e. deletion in the 15q11-q12 region and (C) an arbitrary karyotype that involves a variety of autosomal and allosomal abnormalities. [3]
A chromosome consists of a long strand of DNA containing many genes. A human chromosome can have up to 500 million base pairs of DNA with thousands of genes." See also
Spina bifida (SB; / ˈ s p aɪ n ə ˈ b ɪ f ɪ d ə /; [9] Latin for 'split spine') [10] is a birth defect in which there is incomplete closing of the spine and the membranes around the spinal cord during early development in pregnancy. [1] There are three main types: spina bifida occulta, meningocele and myelomeningocele. [1]
Congenital vertebral anomalies are a collection of malformations of the spine.Most, around 85%, are not clinically significant, but they can cause compression of the spinal cord by deforming the vertebral canal or causing instability.
Maternally-derived chromosome rearrangement p: Short arm of a chromosome pat: Paternally-derived chromosome rearrangement psu dic: pseudo dicentric – only one centromere in a dicentric chromosome is active q: Long arm of a chromosome r: Ring chromosome t: Translocation: ter: Terminal end of arm (e.g. 2qter refers to the end of the long arm of ...
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