About 1 in 150 babies is born with a chromosomal abnormality (1, 2). These are caused by errors in the number or structure of chromosomes. There are many different chromosomal abnormalities. Many children with a chromosomal abnormality have mental and/or physical birth defects. Understanding what chromosomes are may make it easier to understand the wide range of problems chromosomal abnormalities can cause.
A rare chromosomal disorder where the ends of chromosome 1 are deleted and the chromosome rejoins to form a ring. The disorder is characterized by mental and physical development delay, short stature and low birth weight.
A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as heart problems, mental retardation, developmental delay, facial dysmorphism and short stature. The symptoms are variable depending on the exact location of chromosomal deletion.
A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as retarded fetal growth, osteoporosis, facial anomalies and hearing loss.
A rare chromosomal disorder where duplication of a portion of chromosome 1 causes various abnormalities such as short stature, newborn or fetal death, small head, undescended testes and various facial abnormalities.
A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as mental retardation, short stature, hearing loss and hand defects.
A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as mental retardation, missing teeth and small eyes and jaw.
A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as mental retardation, clubfoot an umbilical hernia.
A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as mental retardation, fingernail anomalies and testicular problems.
A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as digital defects, facial dysmorphism, retarded growth, mental retardation and spasticity.
A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as fetal or newborn death, facial dysmorphism, short stature, finger defects and various other anomalies.
A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as facial dysmorphism, retarded fetal growth, seizures, mental retardation, testicular problems and kidney defects.
A rare chromosomal disorder where duplication of a portion of chromosome 1 causes various abnormalities such as retarded fetal growth, facial anomalies, mental retardation, stillbirth, heart defects and finger and toe abnormalities.
A rare chromosomal disorder where duplication of a portion of chromosome 1 causes various abnormalities such as clubfoot, poor muscle tone, neurological dysfunction, short stature, mental retardation and narrowing of the pulmonary arteries and valves.
A rare chromosomal disorder where genetic material from one or both ends of chromosome 10 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
A rare chromosomal disorder where the distal portion of the long arm of chromosome 10 is duplicated so there is three copies of it instead of the normal two. The condition is characterized by drooping upper eyelid, short palpebral fissures and camptodactyly.
Chromosome 10, Monosomy 10p is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Chromosome 10, Monosomy 10p, or a subtype of Chromosome 10, Monosomy 10p, affects less than 200,000 people in the US population.
Chromosome 10, trisomy 10p is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Chromosome 10, trisomy 10p, or a subtype of Chromosome 10, trisomy 10p, affects less than 200,000 people in the US
A rare chromosomal disorder where duplication of a portion of chromosome 10 causes various abnormalities such as a wasted build, gut and heart placement abnormalities and lack of reflexes.
A very rare syndrome caused by a chromosomal defect (10p terminal deletion) and can result in a variety of malformations that are similar to DiGeorge syndrome and velocardiofacial syndrome.
A syndrome that is due to the deletion of chromosome 11.Deletion of the short arm of chromosome 11 with a variable phenotype: Congenital absence of the iris, genitourinary abnormalities and mental retardation known as aniridia-ambiguous genitalia-mental retardation (AGR) triad; Wilms tumor-aniridia-ambiguous genitalia-mental retardation (WAGR) syndrome; Wilms tumor associated with congenital absence of the iris, genitourinary abnormalities, hemihypertrophy, mental retardation, and other anomalies termed AWTA
Chromosome 11, Partial Trisomy 11q is a rare chromosomal disorder in which the end (distal) portion of the long arm (q) of the 11th chromosome appears three times (trisomy) rather than twice in cells of the body. Although associated symptoms and findings may vary, the disorder is often associated with delayed growth before and after birth (prenatal and postnatal growth retardation); varying degrees of mental retardation; distinctive abnormalities of the skull and facial (craniofacial) region; and/or other features. Chromosomal analysis is necessary for a definite diagnosis.
A rare chromosomal disorder where some genetic material from chromosome 11 is moved to chromosome 14. Only one reported case.