Derivative 22 syndrome

Derivative 22 syndrome

Derivative 22 syndrome, or der(22), is a rare disorder associated with multiple congenital anomalies, including profound mental retardation, preauricular skin tags or pits, and conotruncal heart defects. It can occur in offspring of carriers of the constitutional chromosomal translocation t(11;22)(q23;q11), owing to a 3:1 meiotic malsegregation event resulting in partial trisomy of chromosomes 11 and 22

References

*cite journal |author=Funke B, Edelmann L, McCain N, "et al" |title=Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11 |journal=Am. J. Hum. Genet. |volume=64 |issue=3 |pages=747–58 |year=1999 |pmid=10053009 |pmc=1377792 |doi=10.1086/302284 |url=


Wikimedia Foundation. 2010.

Игры ⚽ Нужно сделать НИР?

Look at other dictionaries:

  • Emanuel syndrome — Classification and external resources OMIM 609029 Derivative 22 syndrome, or der(22), is a rare disorder associated with multiple congenital anomalies, including profound mental retardation, preauricular skin tags or pits, and conotruncal heart… …   Wikipedia

  • Irritable bowel syndrome — This article is about a functional disorder. For bowel inflammation, see Inflammatory bowel disease. Irritable bowel syndrome Classification and external resources ICD 10 K58 ICD 9 …   Wikipedia

  • Ectrodactyly-ectodermal dysplasia-cleft syndrome — Infobox Disease Name = PAGENAME Caption = DiseasesDB = 34402 ICD10 = ICD9 = ICDO = OMIM = 129900 OMIM mult = OMIM2|604292 | MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = Ectrodactyly ectodermal dysplasia cleft syndrome, or EEC, is a… …   Wikipedia

  • GNB1L — Guanine nucleotide binding protein (G protein), beta polypeptide 1 like, also known as GNB1L, is a human gene.cite web | title = Entrez Gene: GNB1L guanine nucleotide binding protein (G protein), beta polypeptide 1 like| url = http://www.ncbi.nlm …   Wikipedia

  • endocrine system, human — ▪ anatomy Introduction  group of ductless glands (gland) that regulate body processes by secreting chemical substances called hormones (hormone). Hormones act on nearby tissues or are carried in the bloodstream to act on specific target organs… …   Universalium

  • Aneuploidy — Classification and external resources ICD 10 Q90 Q98 ICD 9 …   Wikipedia

  • Nitrazepam — Systematic (IUPAC) name …   Wikipedia

  • drug — drug1 /drug/, n., v., drugged, drugging. n. 1. Pharm. a chemical substance used in the treatment, cure, prevention, or diagnosis of disease or used to otherwise enhance physical or mental well being. 2. (in federal law) a. any substance… …   Universalium

  • Drug — /droog/, n. Zoroastrianism. the cosmic principle of disorder and falsehood. Cf. Asha. [ < Avestan drauga] * * * I Any chemical agent that affects the function of living things. Some, including antibiotics, stimulants, tranquilizers,… …   Universalium

  • Flunitrazepam — Systematic (IUPAC) name 6 (2 …   Wikipedia

Share the article and excerpts

Direct link
… Do a right-click on the link above
and select “Copy Link”