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16p13.11 microdeletion syndrome

MedGen UID:
930265
Concept ID:
C4304596
Disease or Syndrome
Synonyms: 16p13.11 recurrent microdeletion (neurocognitive disorder susceptibility locus); Del(16)(p13.11); Monosomy 16p13.11; monosomy 16p13.11
SNOMED CT: 16p13.11 microdeletion syndrome (719577000); Monosomy 16p13.11 (719577000)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0016836
Orphanet: ORPHA261236

Definition

A recently described syndrome characterised by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioural problems. Facial features include down-slanting palpebral fissures, short nose, low-set ears, wide mouth and thin upper lip. Variable congenital anomalies can also be observed. This syndrome is caused by an interstitial deletion encompassing 16p13.11. The underlying mechanism is non-allelic homologous recombination. Microdeletions appear de novo or are inherited from mildly affected or completely normal parents in an autosomal dominant manner, suggesting that the microdeletion has incomplete penetrance and variable expressivity. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV16p13.11 microdeletion syndrome

Professional guidelines

PubMed

Tropeano M, Andrieux J, Collier DA
Eur J Hum Genet 2014 May;22(5) Epub 2013 Oct 9 doi: 10.1038/ejhg.2013.230. PMID: 24105370Free PMC Article

Recent clinical studies

Etiology

Smith AE, Jnah A, Newberry D
Neonatal Netw 2018 Sep;37(5):303-309. doi: 10.1891/0730-0832.37.5.303. PMID: 30567812
Sagi-Dain L, Maya I, Falik-Zaccai T, Feingold-Zadok M, Lev D, Yonath H, Kaliner E, Frumkin A, Ben Shachar S, Singer A
Eur J Obstet Gynecol Reprod Biol 2018 Mar;222:80-83. Epub 2018 Jan 23 doi: 10.1016/j.ejogrb.2018.01.015. PMID: 29367169
Tropeano M, Andrieux J, Collier DA
Eur J Hum Genet 2014 May;22(5) Epub 2013 Oct 9 doi: 10.1038/ejhg.2013.230. PMID: 24105370Free PMC Article

Diagnosis

Shum BJ, Kim MS, Kondra K, Hammoudeh JA, Strom C, Ryabets-Lienhard A
J Investig Med High Impact Case Rep 2022 Jan-Dec;10:23247096221123146. doi: 10.1177/23247096221123146. PMID: 36154495Free PMC Article
Smith AE, Jnah A, Newberry D
Neonatal Netw 2018 Sep;37(5):303-309. doi: 10.1891/0730-0832.37.5.303. PMID: 30567812
Sagi-Dain L, Maya I, Falik-Zaccai T, Feingold-Zadok M, Lev D, Yonath H, Kaliner E, Frumkin A, Ben Shachar S, Singer A
Eur J Obstet Gynecol Reprod Biol 2018 Mar;222:80-83. Epub 2018 Jan 23 doi: 10.1016/j.ejogrb.2018.01.015. PMID: 29367169
Tropeano M, Andrieux J, Collier DA
Eur J Hum Genet 2014 May;22(5) Epub 2013 Oct 9 doi: 10.1038/ejhg.2013.230. PMID: 24105370Free PMC Article

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