17q23.1q23.2 microdeletion syndrome

From WikiMD's Wellness Encyclopedia

Alternate names[edit | edit source]

17q23.1-q23.2 microdeletion syndrome; Del(17)(q23.1q23.2); Monosomy 17q23.1-q23.2; Monosomy 17q23.1q23.2; Chromosome 17q23.1-q23.2 deletion syndrome

Definition[edit | edit source]

17q23.1q23.2 microdeletion syndrome is a condition caused by a small deletion of genetic material from chromosome 17. The deletion occurs at a location encompassing bands 23.1 to 23.2 on the long (q) arm of the chromosome. People with 17q23.1q23.2 microdeletion syndrome may have developmental delay, microcephaly, short stature, heart defects and limb abnormalities.

Chromosome 17.jpeg
Human chromosome 17 ideogram.svg

Cause[edit | edit source]

The syndrome is caused by an interstitial deletion (a deletion that does not involve the ends of a chromosome) encompassing bands 23.1 to 23.2 on the long (q) arm of chromosome 17. Two transcription factors, TBX2 and TBX4, which belong to a family of genes implicated in a variety of developmental pathways including those of heart and limbs, are found within this 2.2Mb region. This suggests that they may play a part in the symptoms seen in this condition.

Inheritance[edit | edit source]

Parental FISH testing in most of the reported cases confirmed a de novo origin, meaning that the deletion was new to the family.

Signs and symptoms[edit | edit source]

17q23.1q23.2 microdeletion syndrome is characterized by developmental delay, microcephaly, short stature, heart defects and hand, foot and limb abnormalities. All individuals reported to date have had mild to moderate developmental delay, in particular delays in speech. Most have had heart defects, including patent ductus arteriosus or atrial septal defects. Limb abnormalities include long, thin fingers and toes, and hypoplasia (underdevelopment) of the patellae (knee caps). Scoliosis may also be present. Many patients have also had mild and unspecific unusual facial features.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

  • Delayed speech and language development(Deficiency of speech development)
  • Long fingers
  • Long toe (Increased length of toes)
  • Mild global developmental delay
  • Moderate global developmental delay

30%-79% of people have these symptoms

  • Frontal bossing
  • Intrauterine growth retardation(Prenatal growth deficiency)
  • Microcephaly(Abnormally small skull)
  • Patent ductus arteriosus
  • Pulmonary arterial hypertension(Increased blood pressure in blood vessels of lungs)
  • Short stature(Decreased body height)

5%-29% of people have these symptoms

  • Abnormality of epiphysis morpholog(Abnormal shape of end part of bone)
  • Atrial septal defect(An opening in the wall separating the top two chambers of the heart)
  • Behavioral abnormality(Behavioral changes)
  • Bifid nose(Indentation or clefting of the nose)
  • Bilateral single transverse palmar creases
  • Blepharitis(Inflammation of eyelids)
  • Bulbous nose
  • Chronic otitis media(Chronic infections of the middle ear)
  • Clinodactyly of the 5th finger(Permanent curving of the pinkie finger)
  • Congenital contracture
  • Coxa magna
  • Depressed nasal bridge(Depressed bridge of nose)
  • Dyspnea(Trouble breathing)
  • Epicanthus(Eye folds)
  • Failure to thrive(Faltering weight)
  • Gastroesophageal reflux(Acid reflux)
  • Hearing impairment(Deafness)
  • Highly arched eyebrow(Arched eyebrows)
  • Hyperreflexia(Increased reflexes)
  • Hypertelorism(Wide-set eyes)
  • Limitation of joint mobility(Decreased joint mobility)
  • Long eyelashes(Increased length of eyelashes)
  • Malar flattening(Zygomatic flattening)
  • Muscular hypotonia(Low or weak muscle tone)
  • Narrow mouth(Small mouth)
  • Patellar hypoplasia(Small kneecap)
  • Pes planus(Flat feet)
  • Protruding ear(Prominent ear)
  • Sacral dimple(Spinal dimple)
  • Sandal gap(Gap between 1st and 2nd toes)
  • Scoliosis
  • Shallow acetabular fossae
  • Shawl scrotum(Scrotum surrounds penis)
  • Strabismus(Cross-eyed)
  • Widely spaced teeth(Wide-spaced teeth)

Diagnosis[edit | edit source]

The deletion can be identified by comparative genomic hybridization (CGH) microarray and fluorescence in situ hybridization (FISH).

NIH genetic and rare disease info[edit source]

17q23.1q23.2 microdeletion syndrome is a rare disease.


17q23.1q23.2 microdeletion syndrome Resources
Wikipedia
WikiMD
Navigation: Wellness - Encyclopedia - Health topics - Disease Index‏‎ - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes

Search WikiMD

Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD

WikiMD's Wellness Encyclopedia

Let Food Be Thy Medicine
Medicine Thy Food - Hippocrates

Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.

Contributors: Deepika vegiraju