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29 relations: Aneuploidy, Atresia, Chromosome abnormality, Cleft lip and cleft palate, Coloboma, Congenital heart defect, Down syndrome, Echidna, Electroencephalography, Epicanthic fold, Hypoplasia, Hypoplastic right heart syndrome, Hypotonia, Karyotype, Magnetic resonance imaging, Meiosis, Near-sightedness, Nystagmus, Omphalocele, Optic nerve hypoplasia, Osteoporosis, Otitis, Palpebral fissure, Patent ductus arteriosus, Physical therapy, Puberty, Triple X syndrome, X chromosome, 49,XXXXX.
Aneuploidy
Aneuploidy is the presence of an abnormal number of chromosomes in a cell, for example a human cell having 45 or 47 chromosomes instead of the usual 46.
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Atresia
Atresia is a condition in which an orifice or passage in the body is (usually abnormally) closed or absent.
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Chromosome abnormality
A chromosome abnormality, disorder, anomaly, aberration, or mutation is a missing, extra, or irregular portion of chromosomal DNA.
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Cleft lip and cleft palate
Cleft lip and cleft palate, also known as orofacial cleft, is a group of conditions that includes cleft lip (CL), cleft palate (CP), and both together (CLP).
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Coloboma
A coloboma (from the Greek koloboma, meaning defect) is a hole in one of the structures of the eye, such as the iris, retina, choroid, or optic disc.
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Congenital heart defect
A congenital heart defect (CHD), also known as a congenital heart anomaly or congenital heart disease, is a problem in the structure of the heart that is present at birth.
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Down syndrome
Down syndrome (DS or DNS), also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21.
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Echidna
Echidnas, sometimes known as spiny anteaters, belong to the family Tachyglossidae in the monotreme order of egg-laying mammals.
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Electroencephalography
Electroencephalography (EEG) is an electrophysiological monitoring method to record electrical activity of the brain.
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Epicanthic fold
The epicanthic fold is the skin fold of the upper eyelid, covering the inner corner (medial canthus) of the eye.
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Hypoplasia
Hypoplasia (from Ancient Greek ὑπo- hypo-, "under" + πλάσις plasis, "formation"; adjective form hypoplastic) is underdevelopment or incomplete development of a tissue or organ.
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Hypoplastic right heart syndrome
Hypoplastic right heart syndrome is a congenital heart defect in which the right atrium and right ventricle are underdeveloped.
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Hypotonia
Hypotonia, commonly known as floppy baby syndrome, is a state of low muscle tone (the amount of tension or resistance to stretch in a muscle), often involving reduced muscle strength.
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Karyotype
A karyotype is the number and appearance of chromosomes in the nucleus of a eukaryotic cell.
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Magnetic resonance imaging
Magnetic resonance imaging (MRI) is a medical imaging technique used in radiology to form pictures of the anatomy and the physiological processes of the body in both health and disease.
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Meiosis
Meiosis (from Greek μείωσις, meiosis, which means lessening) is a specialized type of cell division that reduces the chromosome number by half, creating four haploid cells, each genetically distinct from the parent cell that gave rise to them.
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Near-sightedness
Near-sightedness, also known as short-sightedness and myopia, is a condition of the eye where light focuses in front of, instead of on, the retina.
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Nystagmus
Nystagmus is a condition of involuntary (or voluntary, in rare cases) eye movement, acquired in infancy or later in life, that may result in reduced or limited vision.
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Omphalocele
Omphalocele, also called exomphalos, is a rare abdominal wall defect in which the intestines, liver and occasionally other organs remain outside of the abdomen in a sac because of failure of the normal return of intestines and other contents back to the abdominal cavity during around the ninth week of intrauterine development.
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Optic nerve hypoplasia
Optic nerve hypoplasia (ONH) is a medical condition arising from the underdevelopment of the optic nerve(s).
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Osteoporosis
Osteoporosis is a disease where increased bone weakness increases the risk of a broken bone.
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Otitis
Otitis is a general term for inflammation or infection of the ear, in both humans and other animals.
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Palpebral fissure
The palpebral fissure is the elliptic space between the medial and lateral canthi of the two open lids.
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Patent ductus arteriosus
Patent ductus arteriosus (PDA) is a condition wherein the ductus arteriosus fails to close after birth.
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Physical therapy
Physical therapy (PT), also known as physiotherapy, is one of the allied health professions that, by using mechanical force and movements (bio-mechanics or kinesiology), manual therapy, exercise therapy, and electrotherapy, remediates impairments and promotes mobility and function.
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Puberty
Puberty is the process of physical changes through which a child's body matures into an adult body capable of sexual reproduction.
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Triple X syndrome
Triple X syndrome, also known as trisomy X and 47,XXX, is characterized by the presence of an extra X chromosome in each cell of a female.
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X chromosome
The X chromosome is one of the two sex-determining chromosomes (allosomes) in many organisms, including mammals (the other is the Y chromosome), and is found in both males and females.
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49,XXXXX
49,XXXXX, also known as pentasomy X, is a chromosome abnormality where a female has five X chromosomes rather than the normal two.
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48 xxxx syndrome, 48, XXXX, 48,XXXX, 48,xxxx, Quadruple X, Tetrasomy x, Tetrasomy-x, XXXX syndrome.
References
[1] https://en.wikipedia.org/wiki/Tetrasomy_X
