Chromosome 9- trisomy mosaic

December 31, 2014

Overview

Chromosome 9, Trisomy Mosaic, also known as Trisomy 9 Mosaicism syndrome, is a rare chromosomal disorder in which the entire 9th chromosome appears three times (trisomy) rather than twice in some cells of the body. The term "mosaic" indicates that some cells contain the extra chromosome 9, while others have the normal chromosomal pair.

Symptoms

* Craniofacial anomalies * Narrow bifrontal diameter * Short space between eyelids * Slit-like nostrils * Posteriorly rotated ears * Skeletal anomalies * Joint anomalies * Abnormal position of hips * Abnormal position of knees * Abnormal position of feet * Abnormal position of elbows * Abnormal position of digits * Abnormal function of hips * Abnormal function of knees * Abnormal function of feet * Abnormal function of elbows * Abnormal function of digits * Narrow chest * Heart defects * Small penis * Renal malformations * Cystic dilatation of fourth ventricle * Lack of midline fusion of cerebellum * Growth retardation * Severe mental deficiency * Sloping forehead * Up-slanting eyes * Deep set eyes * Prominent nasal bridge * Short nose * Fleshy nose tip * Small nostrils * Prominent lip covering * Recessed lower lip * Small lower jaw * Low-set ears * Abnormal ear shape * Impaired hip function * Hip joint abnormalities * Joint abnormalities * Kyphoscoliosis * Narrow chest * Hypoplasia of sacrum * Hypoplasia of hip bones * Hypoplasia of pubic arch * Hypoplasia of toes * Congenital heart defects * Long face * Narrow face * Narrow eyelids

Causes

Chromosome 9, Trisomy Mosaic may be caused by errors during the division of a parent's reproductive cells (meiosis) or during the division of body tissue cells (somatic cells) early in the development of the embryo (mitosis).

Resources

Chromosome 9, trisomy mosaic is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Chromosome 9, trisomy mosaic, or a subtype of Chromosome 9, trisomy mosaic, affects less than 200,000 people in the US population. Source - National Institutes of Health (NIH)