7p22.1 microduplication syndrome
{{Short description|Rare chromosomal abnormality in which part of the short arm of chromosome 7 is duplicated}}
{{Infobox medical condition
|name = 7p22.1 microduplication syndrome
|synonyms = Trisomy 7p22.1
|image =
|image_size =
|alt =
|image_thumbtime =
|caption =
|width =
|image2 =
|image_size2 =
|alt2 =
|image_thumbtime2 =
|caption2 =
|width2 =
|pronounce =
|pronounce 2 =
|specialty = Medical genetics
|symptoms = intellectual disabilities, speech and motor delay, facial dysmorphisms
|complications =
|onset = Birth
|duration = Life-long
|types =
|causes = Duplication of the p22.1 region in chromosome 7
|risks =
|diagnosis =
|differential =
|prevention =
|treatment =
|medication =
|prognosis =
|frequency =
|deaths =
}}
7p22.1 microduplication syndrome (also called Trisomy 7p22.1) is a genetic disorder which is characterized by cranial and facial dysmorphisms, intellectual disability, and motor-speech delays.{{Cite journal |last1=Caselli |first1=Rossella |last2=Ballarati |first2=Lucia |last3=Vignoli |first3=Aglaia |last4=Peron |first4=Angela |last5=Recalcati |first5=Maria Paola |last6=Catusi |first6=Ilaria |last7=Larizza |first7=Lidia |last8=Giardino |first8=Daniela |date=2015-11-01 |title=7p22.1 microduplication syndrome: Clinical and molecular characterization of an adult case and review of the literature |url=https://www.sciencedirect.com/science/article/pii/S1769721215300100 |journal=European Journal of Medical Genetics |language=en |volume=58 |issue=11 |pages=578–583 |doi=10.1016/j.ejmg.2015.08.003 |pmid=26297194 |issn=1769-7212|url-access=subscription }} It is caused by a duplication of the p22.1 region of chromosome 7.
Signs and symptoms
The symptoms of this syndrome are (but are not limited to) cranio-facial dysmorphisms such as macrocephaly, frontal bossing, low-set ears, hypertelorism, etc., intellectual disabilities, speech and motor delays, and heart, ocular, renal and skeletal defects (such as patent foramen ovale {heart} or brachydactyly type D {skeletal} ).{{Cite web |title=Orphanet: 7p22.1 microduplication syndrome |url=https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=314034 |access-date=2022-04-30 |website=www.orpha.net |language=en}}
Causes
This condition (as the name implies) is caused by a 430 kB duplication of the p22.1 region of chromosome 7.{{Cite journal |last1=Caselli |first1=Rossella |last2=Ballarati |first2=Lucia |last3=Vignoli |first3=Aglaia |last4=Peron |first4=Angela |last5=Recalcati |first5=Maria Paola |last6=Catusi |first6=Ilaria |last7=Larizza |first7=Lidia |last8=Giardino |first8=Daniela |date=November 2015 |title=7p22.1 microduplication syndrome: Clinical and molecular characterization of an adult case and review of the literature |url=https://pubmed.ncbi.nlm.nih.gov/26297194/ |journal=European Journal of Medical Genetics |volume=58 |issue=11 |pages=578–583 |doi=10.1016/j.ejmg.2015.08.003 |issn=1878-0849 |pmid=26297194}} This mutation is autosomal recessive, meaning that a baby would need 1 copy of a mutated gene from both parents in order to show symptoms of the disorder.
Epidemiology
Only 60 cases of 7q22.1 microduplication syndrome have been recorded in medical literature.{{Cite journal |last1=Goitia |first1=Veronica |last2=Oquendo |first2=Marcial |last3=Stratton |first3=Robert |date=2015-03-29 |title=Case of 7p22.1 Microduplication Detected by Whole Genome Microarray (REVEAL) in Workup of Child Diagnosed with Autism |journal=Case Reports in Genetics |language=en |volume=2015 |pages=e212436 |doi=10.1155/2015/212436 |pmid=25893121 |pmc=4393924 |issn=2090-6544|doi-access=free }}
References
{{reflist}}