Autosomal chromosomes chromosomes human pair 5. Medical search. Frequent questions

The 46 human chromosomes (22 pairs of autosomal chromosomes and 2 sex chromosomes) between them house almost 3 billion base pairs of DNA that contain about 20,500 protein-coding genes. (medicinenet.com)
Thus, crucial genes seem to have been retained by the Y chromosome. (biomedcentral.com)
Three X-chromosome loci had plausible candidate genes, including AR (on Xq12), TSR2 and KLF8 (both on Xp11.21). (nature.com)
AceView: gene:him-8, a comprehensive annotation of human, mouse and worm genes with mRNAs or ESTsAceView. (nih.gov)
Figure 3 shows how children get their chromosomes and, therefore, their genes and DNA from their parents. (cdc.gov)
Changes in and around genes cause conditions to occur within members of the same family in certain patterns, called autosomal "dominant," autosomal "recessive," and X-linked "recessive. (cdc.gov)
Analysis of 9,000 orthologs (genes that share same ancestor) in six species (dog, human, mouse, horse, cow and pig) provided info on genetic modulation during evolution. (biotechnologyforums.com)
Genes associated with psychiatric disorders, various cancers, cardiovascular disease, immune diseases and metabolic and neurological disease in humans were easily located in the porcine genome. (biotechnologyforums.com)
Another 157 non-sense mutations in 142 genes result in following human diseases: corneal dystrophy, hemolytic anemia, epidermolysis bullosa, laryngoonychocutaneous syndrome, paroxysmal nonkinesigenic dyskinesia 1, mental retardation, susceptibility to autoimmune disease development and sepsis, congenital contractural arachnodactyly, citrullinemia and pancreatic carcinoma. (biotechnologyforums.com)
The team identified 1,215 blocks of genes that consistently occur on the same chromosome in the same order across all 32 genomes. (bionity.com)
The scientists found nine whole chromosomes, or chromosome fragments in the mammal ancestor whose order of genes is the same in modern birds' chromosomes. (bionity.com)
This remarkable finding shows the evolutionary stability of the order and orientation of genes on chromosomes over an extended evolutionary timeframe of more than 320 million years," Lewin says. (bionity.com)
A comparison of human and chimpanzee genes in the region of this inversion indicates that two genes-ROCK1 and USP14-that are adjacent on chimpanzee chromosome 17 (which corresponds to human chromosome 18) are more distantly positioned on human chromosome 18. (schleiden-eifel.de)
Because even small segments of chromosomes can span many genes, chromosomal disorders are characteristically dramatic and often fatal. (schleiden-eifel.de)
Trisha didn't get any of those particular genes on that particular chromosome. (legalgenealogist.com)
The interaction of genes with each other and with environmental factors underlies many aspects of human health and disease. (who.int)
These conditions are described as genetic diseases because a defect in one or more genes or chromosomes leads to a pathological condition. (who.int)
Lighter bands on chromosomes called euchromatin where genes are expressed. (mindmeister.com)
It is also estimated that each human being is a carrier of around five recessive lethal genes and perhaps even more recessive disease genes, which may pose risk for the offspring of related individuals (such as cousin marriages). (dorak.info)
First, it is used to mean a collection of specific alleles (that is, specific DNA sequences) in a cluster of tightly linked genes on a chromosome that are likely to be inherited together-that is, they are likely to be conserved as a sequence that survives the descent of many generations of reproduction. (wikipedia.org)
[ 4 ] The 6 genes involved in WS are PAX3 (encoding the paired box 3 transcription factor), MITF (microphthalmia-associated transcription factor), EDN3 (endothelin 3), EDNRB (endothelin receptor type B), SOX10 (encoding the Sry bOX10 transcription factor), and SNAI2 (snail homolog 2), with different frequencies. (medscape.com)
FDY originated 2 million years ago from a duplication of a contiguous autosomal segment of 11 kb containing five genes that inserted into the Y chromosome. (speakerdeck.com)

In more than half of the cases, ET is inherited in an autosomal dominant manner, but no causative ET gene has been identified. (nel.edu)
WS1 may be inherited in an autosomal dominant pattern or may be the result of a de novo mutation. (medscape.com)

112 substitutions are associated with human diseases such as: diabetes, obesity, Parkinson's disease, Alzheimer's disease, dyslexia… 32,548 non-sense mutations identified in 48 pigs revealed 6 protein variant that induce disease in humans. (biotechnologyforums.com)
This study was undertaken to identify causal mutations responsible for autosomal recessive retinitis pigmentosa (arRP) in consanguineous families. (molvis.org)
Dominant negative mutations (where mutation on one copy renders the other copy inactive) are involved in osteogenesis imperfecta type I and autosomal dominant nephrogenic diabetes insidipus . (dorak.info)
The importance of pseudoautosomal regions is evident in the association of PAR1-specific mutations with various phenotypic consequences in humans. (biomedcentral.com)
The term ' haplogroup ' refers to the SNP/ unique-event polymorphism (UEP) mutations that represent the clade to which a collection of particular human haplotypes belong. (wikipedia.org)
Most, if not all, cases of WS1 are caused by mutations in the PAX3 gene located on chromosome band 2q35. (medscape.com)
Mutations in the MITF gene, located on chromosome band 3p14.1-p12.3, cause some cases of WS2. (medscape.com)
The research team also looked at mosaic alterations on specific chromosomes and found differences in the rate of mutations across individuals of different ancestries. (bioengineer.org)

Advancements in embryo culture, blastocyst biopsy techniques, 24-chromosome aneuploidy screening platforms, and improved genomic coverage of new sequencing platforms, such as next-generation sequencing, have made PGT safe and accessible for all patients who undergo in vitro fertilization. (medscape.com)
examples include aneuploidy (atypical chromosome number), deletion (loss of part of a chromosome), duplications (extra copies of a region of a chromosome), inversion (when part of a chromosome breaks off and reattaches in reverse. (schleiden-eifel.de)

Because chromosomes are the carriers of the genetic material, abnormalities in chromosome number or structure can result in disease. (medicinenet.com)
The table below shows the correlation of maternal age (mother's age) and the potential risk of human genetic abnormalities in children. (edu.au)
The first column shows maternal age, the second column shows the most common human chromosomal abnormality, trisomy 21 (Down syndrome), the third column shows all chromosomal abnormalities. (edu.au)
Changes in the structure or quantity of chromosomes , which are strands of condensed genetic material, are known as chromosomal aberrations or abnormalities. (schleiden-eifel.de)
However, within populations there can be found abnormalities involving the structure or number of chromosomes . (schleiden-eifel.de)
Trisomy of sex chromosomes is compatible with life, but will cause phenotypic abnormalities. (mindmeister.com)
Compared to autosomes and the X chromosome, relatively few numerical or structural cytogenetic abnormalities have been reported for ECAY. (veteriankey.com)

X-linked inheritance, in which the defective gene is present on the female, or X-chromosome. (medicinenet.com)
The human genome is the entire 'treasury of human inheritance. (medicinenet.com)
The reconstruction shows that the mammal ancestor had 19 autosomal chromosomes, which control the inheritance of an organism's characteristics outside of those controlled by sex-linked chromosomes, (these are paired in most cells, making 38 in total) plus two sex chromosomes, said Joana Damas, first author on the study and a postdoctoral scientist at the UC Davis Genome Center. (bionity.com)
WS4 is a heterogeneous disorder with either autosomal recessive or autosomal dominant inheritance. (medscape.com)
The diagram below shows a pedigree for the inheritance of a human genetic disease. (dse00.com)

The genetic abnormality can range from minuscule to major -- from a discrete mutation in a single base in the DNA of a single gene to a gross chromosomal abnormality involving the addition or subtraction of an entire chromosome or set of chromosomes. (medicinenet.com)
Diseases may also occur because of chromosomal translocation in which portions of two chromosomes are exchanged. (medicinenet.com)
These chromosomes are made up of extremely long DNA molecules in combination with chromosomal proteins. (health.am)
In an organism, any visible abnormality in chromosome number or structure from the diploid set is known as chromosomal aberration . (schleiden-eifel.de)
[ 1 ] They described a child with midline fusion defects, and subsequent cytogenetic studies revealed a chromosomal deletion of the short arm of chromosome 4. (medscape.com)

Microfluidic whole genome haplotyping is a technique for the physical separation of individual chromosomes from a metaphase cell followed by direct resolution of the haplotype for each allele. (wikipedia.org)

The Broad Institute, which sequenced its 100,000th human genome in 2018, forecast that 13.5 million whole human genomes will be sequenced for medical purposes by 2023, up from 1.5 million at the end of 2018. (geneticsdigest.com)

The Andean specimens present C-heterochromatic blocks in most of their 22 chromosomes, whereas non-Andean specimens have only 4-7 autosomes with C-banding. (cdc.gov)
If the gene is part of one of the first 22 pairs of chromosomes, called autosomes, the genetic condition is called an "autosomal" condition. (cdc.gov)
If the disease is autosomal, individual 8 must have 2 recessive alleles on his autosomes for manifestation of disease. (dse00.com)

Usher syndrome type III is an autosomal recessive disorder characterized by progressive sensorineural hearing loss, vestibular dysfunction, and retinitis pigmentosa. (nih.gov)

The majority of affected individuals are missing a 1.35 million DNA base pair sequence, also written as as 1.35 megabases, in the q21.1 region of chromosome 1. (wikipedia.org)
The core phenotype maps within the terminal 1.9 Mb region of chromosome 4p. (medscape.com)

We find that PAR1 is fast evolving and closer to evolutionary nucleotide equilibrium than autosomal telomeres. (biomedcentral.com)

To our knowledge this is the first case of an initiation codon mutation in a human crystallin gene, and only the second report of a CRYBB1 mutation associated with autosomal recessive congenital cataracts. (molvis.org)
In order to further delineate the molecular pathology of autosomal recessive cataracts, we investigated a consanguineous family with nuclear pulverulent cataracts and identified a novel germline CRYBB1 mutation. (molvis.org)
PAR1 has a crucial role in ensuring proper segregation of sex chromosomes during male meiosis, exposing it to extreme recombination and mutation processes. (biomedcentral.com)

To identify the molecular basis for autosomal recessively inherited congenital non-syndromic pulverulent cataracts in a consanguineous family with four affected children. (molvis.org)
Such factors include a tradition of consanguineous marriage , which results in a higher rate of autosomal recessive conditions including congenital malformations, stillbirths, or mental retardation. (who.int)
WS, which is believed to account for 2-5% of patients with congenital hearing loss, has an estimated prevalence of 1 in 42,000 persons (or 0.24 per 10,000 persons). (medscape.com)

With the 1q21.1 deletion syndrome, one chromosome of the pair is not complete, because a part of the sequence of the chromosome is missing. (wikipedia.org)
13 The sequence reads were mapped onto the human reference genome, assembly GRCh37/hg19, with decoy sequences (hs37d5) and an average sequencing coverage of 32.4× for full-length autosomal chromosomes. (nature.com)
The sequence of the human genome obtained by the Human Genome Project, completed in April 2003, provides the first holistic view of our genetic heritage. (medicinenet.com)
In the present study we used DYZ1, a satellite fraction present in the form of tandem arrays on the long arm of the human Y chromosome, as a tool to uncover sequence variations between the monozygotic males. (biomedcentral.com)
Despite recent evidence for Y chromosome introgression from humans into Neanderthals, we find that the Neanderthal PAR1 retained similarity to the Denisovan sequence. (biomedcentral.com)
Sequence evolution of the pseudoautosomal region after the split between the avian and mammalian lineages, and leading up to extant mammalian species, involved the formation of several evolutionary strata mediated by recombination suppression between the sex chromosomes [ 18 , 19 , 20 ]. (biomedcentral.com)
It can be all the chromosomes from one of the parents or a minor part of a chromosome, for example a sequence of 9000 base pairs . (wikipedia.org)
It is thought that identifying these statistical associations and a few alleles of a specific haplotype sequence can facilitate identifying all other such polymorphic sites that are nearby on the chromosome. (wikipedia.org)

The current release of iJGVD provides allele frequency data for 4,301,546 autosomal SNVs. (nature.com)
A single gene disorder (also called Mendelian disorder) is one that is determined by a single genetic locus and the specific allele on one or both members of a chromosome pair. (health.am)
iii) Using the information in the pedigree for individuals 2, 5 and 6, explain why it is not possible for the allele of disease A to be located on the X chromosome or the Y chromosome. (dse00.com)
If the allele for disease A is X-linked, individual 5 must receive defective allele in X-chromosome and have manifested the disease. (dse00.com)
If the allele for disease A is Y-linked, individual 6 must receive defective allele in Y-chromosome and have manifested the disease. (dse00.com)
Hence, it is impossible for allele of disease A to be located on X or Y chromosome. (dse00.com)
ii) Deduce whether the allele for short sight is X-linked or autosomal. (dse00.com)
One of her X-chromosomes with the recessive allele must have been inherited from her father D. (dse00.com)
Hence, the allele for short-sightedness must not be located on the X-chromosome / is located on the autosome. (dse00.com)

Genome-wide scans localized the disease phenotype to chromosome 8q, a region harboring RP1, a gene previously implicated in the pathogenesis of RP. (molvis.org)
In Cri-Du-Chat syndrome (5p deletion), the genetic basis of the phenotype is haploinsufficiency for the telomerase reverse transcriptase gene ( TERT ), which is included in the deleted part of chromosome 5. (dorak.info)
This might be because rearrangements in the gene-poor Y chromosome have milder effect on the phenotype, as a result of which the affected individuals escape attention and are not subjected to cytogenetic analysis. (veteriankey.com)
However, both 5 and 6 have not manifested the disease and have a normal phenotype. (dse00.com)
The second and far more frequent category is identified by large deletions that average 5-18 Mb and cause the widely recognizable Wolf-Hirschhorn syndrome phenotype. (medscape.com)

Estimates of variance explained by genome-wide autosomal SNPs ( h 2 SNP ) range from 0.34 to 0.67 4 , 8 . (nature.com)
For example, consider a diploid organism and two bi-allelic loci (such as SNPs ) on the same chromosome. (wikipedia.org)

4 performed a GWAS case-control meta-analysis on over 22,000 males, finding 63 independent MPB-associated loci, with six on the X-chromosome. (nature.com)
The first 22 pairs of chromosomes, called number 1 to 22, are the same in males and females. (cdc.gov)
Autosomal" conditions affect both males and females equally. (cdc.gov)
Since female DNA doesn't include the Y chromosome, all tests and testing bundles incorporating Y DNA exploration are exclusively available to males. (top10dnatests.com)
There are additional complications mentioned in the paper (such as not all humans having a simple XX or XY pair, or contamination by males/females messing up with the ratio of ancient samples of the opposite sex). (blogspot.com)
females have two X chromosomes, while males have one X and one Y chromosome. (choc.org)

Altered proteins typical for certain human diseases were analyzed in pigs also. (biotechnologyforums.com)
Genetic similarity between humans and pigs will help scientists find better therapeutic solutions for existing diseases. (biotechnologyforums.com)
Some genetic diseases, such as haemophilia, are carried on the X-chromosome (these X-linked disorders occur mainly in men). (who.int)
Whether you want to learn more about your family heritage, understand your risk for certain diseases, or discover unknown relatives, these autosomal DNA test kits - which range in price from about $60 to $100 - appeal to the curiosity in many of us. (calstate.edu)
Future work that builds on these findings could provide insight into human diseases, such as brain development disorders and cancer, where centrioles are either defective or present in the wrong number. (elifesciences.org)

1q21.1 deletion syndrome is a rare aberration of chromosome 1. (wikipedia.org)
For example, Down syndrome (sometimes referred to as ' Down's syndrome ') or trisomy 21 is a common genetic disorder that occurs when a person has three copies of chromosome 21. (medicinenet.com)
Trisomy 21 → gain of an extra chromosome 21, results in Down's syndrome. (mindmeister.com)
Additionally, there are two reports about infertile stallions having XXY sex chromosomes - an equine counterpart to human Kleinfelter syndrome (Kubien et al. (veteriankey.com)
Wolf-Hirschhorn syndrome results from the deletion of the distal short arm of chromosome 4. (medscape.com)
Most phenotypic manifestations in this syndrome reflect a contiguous gene syndrome, leading to a phenotypic map of chromosome arm 4p. (medscape.com)

The human Y chromosome is male specific, constitutively haploid and largely escapes meiotic recombination. (biomedcentral.com)
a complete haploid set of chromosomes is present. (schleiden-eifel.de)
A set of pairs of chromosomes is called diploid and a set of only one half of each pair is called haploid. (wikipedia.org)
The haploid genotype (haplotype) is a genotype that considers the singular chromosomes rather than the pairs of chromosomes. (wikipedia.org)

Obligate male crossovers are restricted to this physically small region during male meiosis, so recombination rates per base pair are extremely high, and the region shows high nucleotide diversity. (biomedcentral.com)

This deletion affects one of each cell's two copies of chromosome 1. (wikipedia.org)
Since the autosomal chromosomes are paired, there are 2 copies of each gene. (health.am)

citation needed] 1q21.1 deletion is autosomal dominant, with 18%-50% of deletions developing de novo and 50%-82% inherited from a parent. (wikipedia.org)
The only true Y chromosome structural rearrangements, reported so far, are large-scale ECAY deletions in 64,XY sex reversal mares (Raudsepp et al. (veteriankey.com)

A large deletion several megabases (Mb) in length, easily detected using conventional chromosome analysis, is usually associated with severe phenotypic expression, including multiple malformations. (medscape.com)

if too many or too few centrioles are built, cell division errors can occur that lead to the generation of new cells with abnormal numbers of chromosomes. (elifesciences.org)

This polymorphism is primarily attributed to the various amount of Y heterochromatin, though earlier studies also suggest variation in the euchromatic portion of the chromosome (Power, 1988). (veteriankey.com)
DNA molecule 1 differs from DNA molecule 2 at a single base-pair location (a C/A polymorphism). (wikipedia.org)

A new article demonstrates that it's possible to assign the sex of individuals by considering the ratio of sequences aligning to chromosomes X and Y. This seems quite useful, since often ancient DNA is extracted from isolated finds where there isn't enough of the skeleton to make a sex determination morphologically. (blogspot.com)
We investigate PAR1 evolution using population genomic datasets of extant humans, eight populations of great apes, and two archaic human genome sequences. (biomedcentral.com)
Each human genome is made up of about three billion base pairs - the basic building blocks of DNA that combine in sequences (C + G, A + T, etc.) of complementary pairs to make up a strand of DNA. (calstate.edu)
The sequences are about 300 base pairs long and are repeated several thousand times throughout the genome. (ojp.gov)

Again, mice weren't the perfect models for cystic fibrosis analysis because they don't exhibit lung and pancreatic disorders (responsible for highest morbidity and mortality rate in humans). (biotechnologyforums.com)

The 23rd pair is called the sex chromosomes. (cdc.gov)

[ 2 ] Both WS1 and WS2 are transmitted as autosomal dominant conditions with interfamilial and intrafamilial variability. (medscape.com)

Autosomal genetic variance is enriched for common variants and regions of lower linkage disequilibrium. (nature.com)
they treated MPB as a ordered categorical trait with four levels, and identified 287 independent MPB-associated variants: 247 autosomal, and 40 on the X-chromosome 8 . (nature.com)

In 1q21.1, the '1' stands for chromosome 1, the 'q' stands for the long arm of the chromosome and '21.1' stands for the part of the long arm in which the deletion is situated. (wikipedia.org)
The largest deletion seen on a living human is over 5 Mb. (wikipedia.org)
Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3). (medlineplus.gov)
Factors involved in prediction of prognosis include the extent of the deletion, the occurrence of complex chromosome anomalies, and the severity of seizures. (medscape.com)

If a normal diploid cell is 2n, the chromosome content of a double tetrasomic cell is designated. (schleiden-eifel.de)

and PGTsr, which involves specifically screening for a structural rearrangment of chromosomes such as balanced translocations. (medscape.com)

3 An autosomal DNA test works across genders and helps us find cousins with whom we share DNA from all parts of our family tree, paternal and maternal alike. (legalgenealogist.com)

A human cell has one pair of identical chromosomes on chromosome 1. (wikipedia.org)
Misrepresenting anti-racialism as the position that "all human populations are identical" or there are "no differences between populations" is a common tactic among racialists. (rationalwiki.org)
The latter is a Y chromosome that has lost the short arm and replaced it with an identical copy of the long arm. (veteriankey.com)
This means that they also need to copy all of their DNA and then deliver identical sets of chromosomes to each new cell. (elifesciences.org)

RP is a genetically heterogeneous disorder that manifests as an autosomal dominant, autosomal recessive, and X-linked trait. (molvis.org)

Thirty years ago, scientists used genomics to trace human migration across continents. (geneticsdigest.com)
An important breakthrough in horse Y chromosome research came with the availability of new genomics tools and resources, such as large-insert genomic bacterial artificial chromosome (BAC) libraries (for review, see Rubes et al. (veteriankey.com)

Recent progress in genome assembly of the sex chromosomes and the availability of population genomic datasets have now made it possible to study divergence and diversity processes of this important region in detail. (biomedcentral.com)
Human genome assembly solved? (speakerdeck.com)

May have trisomy of other chromosomes, eg. (mindmeister.com)

Chromosomes, distinct structures made up of DNA and protein, are located in the nucleus of each cell. (medicinenet.com)
In the present study, we have revised the structure of the USH3 gene, including a new translation start site, 5' untranslated region, and a transcript encoding a 232-amino acid protein. (nih.gov)
By performing cell biological and biochemical experiments using human cells, Moyer and Holland show that PLK4 interacts with a protein called STIL that is found in the central part of the centriole. (elifesciences.org)

Mammalian Y chromosome originated from an ancestral autosome about 300 million years ago is a degenerated X-chromosome [ 16 ]. (biomedcentral.com)

Other changes in chromosome 4 can involve a ring structure or translocation. (medscape.com)

In addition, although a number of genetic causes of autosomal dominant pulverulent cataracts have been identified (including CRYBB1 ) this is the first gene to have been implicated in autosomal recessive nuclear pulverulent cataract. (molvis.org)

Usually, human cells have 46 chromosomes that occur in 23 pairs. (cdc.gov)

Aligned human and pig orthologous proteins showed 1,393,618 positions where amino acid differ. (biotechnologyforums.com)

Race is not an accurate or productive way to describe human biological variation. (rationalwiki.org)
:103 Only in 1962 was the idea first proposed that human variation is continuous. (rationalwiki.org)
5. (a) What is variation? (vedantu.com)
Chaisson, Wilson, Eichler (2015) emphasize the importance of complete de novo assembly as opposed to read mapping as the primary means to understanding the full range of human genetic variation. (speakerdeck.com)

first symptoms appear in 5-6 months old pig and complete disease progression is achieved after 20 months. (biotechnologyforums.com)

The pseudoautosomal region 1 (PAR1) is a 2.7 Mb telomeric region of human sex chromosomes. (biomedcentral.com)

In this project, the genomic DNA of 1,070 subjects obtained from peripheral blood samples was subjected to paired-end sequencing using the Illumina HiSeq 2500 platform. (nature.com)
Consequently, PAR1 of humans and great apes is a small genomic region evolving under a concentration of strong population genetic forces. (biomedcentral.com)
2009), chromosome flow sorting and microdissection technology, and various genomic DNA amplification systems (Telenius et al. (veteriankey.com)

Today, a scientist can download sequencing data on up to 1.23 million segments of DNA from thousands of ancient and modern human genomes simply by logging into a website maintained by the David Reich Lab at Harvard Medical School for free. (geneticsdigest.com)
The number of human genomes stored by direct-to-consumer DNA testing services, meanwhile, is on pace to surpass 100 million by early 2021, according to an article published by The MIT Technology Review earlier this year. (geneticsdigest.com)
The cost of same-day, clinical-grade sequencing of entire human genomes is fast approaching the sub-$1,000 price point deemed critical to mass adoption of precision medicine. (geneticsdigest.com)

Within each cell of a person's body, the genetic instructions (DNA) are packaged into larger units called chromosomes. (cdc.gov)
The chromosome number of this cell is 2n-1 = 45. (schleiden-eifel.de)
Humans have 46 chromosomes in each cell of their bodies, or 23 pairs. (choc.org)
Each cell in our bodies contains over two meters of DNA, which is divided into 46 packages of information called chromosomes. (elifesciences.org)

Anatomy66

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