Isodicentric 15, also called idic(15), partial tetrasomy 15q, or inverted duplication 15 (inv dup 15) is a rare chromosomal disorder where there are four copies of a portion of the long arm of chromosome 15 instead of the normal two resulting in various abnormalities.
A rare chromosomal disorder where duplication of a portion of chromosome 15 causes various abnormalities such as clubfoot, poor muscle tone, neurological dysfunction and hand abnormalities.
A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the deleted genetic material.
Chromosome 15q trisomy is an extremely rare genetic disorder, caused by a chromosomal aberration in which there is an excess copy of the long ("q") arm of human chromosome 15. The disorder is also known as Distal Duplication 15q and Partial Duplication 15q Syndrome.
A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 16. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material. Severe cases often result in spontaneous abortion or infant death.
A rare chromosomal disorder where an extra copy of chromosome 16 is inherited from one parent only.
Chromosome 17 ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 17 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.
Trisomy 17 mosaicism is a chromosomal abnormality in which there are three copies of chromosome 17 in some cells of the body, rather than the usual two copies. Trisomy 17 mosaicism is one of the rarest trisomies in humans. It is often incorrectly called trisomy 17 (also referred to as full trisomy 17), which is when three copies of chromosome 17 are present in all cells of the body. Full trisomy 17 has never been reported in a living individual in the medical literature.
Chromosome 17, deletion 17q23 q24: A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
Chromosome 17, trisomy 17p11.2: A rare chromosomal disorder where a portion of the short arm of chromosome 17 is duplicated.
Chromosome 17p11.2 duplication is a rare chromosomal disorder where a portion of the short arm of chromosome 17 is duplicated.
Chromosome 18 deletion syndrome: A rare chromosomal disorder where a portion of chromosome 18 is missing.
Chromosome 18, Monosomy 18p is a rare chromosomal disorder in which all or part of the short arm (p) of chromosome 18 is deleted (monosomic). The disorder is typically characterized by short stature, variable degrees of mental retardation, speech delays, malformations of the skull and facial (craniofacial) region, and/or additional physical abnormalities.
Chromosome 18 Ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 18 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.
Chromosome 18, deletion 18q23: A very rare syndrome caused by a deletion of a part of the material on chromosome 18 and resulting in various abnormalities such as retarded growth, hearing loss and mental retardation. The abnormalities vary from patient to patient.
Chromosome 18, Tetrasomy 18p: A rare chromosomal disorder where there are four copies of short arm of chromosome 18 instead of the normal two which results in various genital, kidney, digital, head and face abnormalities.
Chromosome 18, trisomy 18p: A rare chromosomal disorder where a portion of the short arm (p) is duplicated resulting in various abnormalities.
Chromosome 18, trisomy 18q: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 18. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
Chromosome 18p deletion syndrome: Another name for 18p minus syndrome (or close medical condition association). 18p minus syndrome: A rare chromosomal disorder where a portion of chromosome 18 is missing which is characterized by mental and growth deficiencies, drooping upper eyelid and prominent ears. The type and severity of symptoms is determined by the amount of genetic material that is missing.
Chromosome 19 ring syndrome: A rare chromosomal disorder where genetic material from one or both ends of chromosome 19 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.
Chromosome 19 ring syndrome: A rare chromosomal disorder where genetic material from one or both ends of chromosome 19 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.
Chromosome 19q, partial duplication: A rare chromosomal disorder where the long arm of chromosome is triplicated. The type and severity of symptoms is determined by the size of the duplicated genetic portion.
1q deletion: A rare chromosomal disorder where part of the long arm (q) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.