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Mayer-Rokitansky-Küster-Hauser syndrome with 22q11.21 microduplication: a case report
- Source :
- Journal of Medical Case Reports, Vol 15, Iss 1, Pp 1-6 (2021), Journal of Medical Case Reports
- Publication Year :
- 2021
- Publisher :
- BMC, 2021.
-
Abstract
- Background Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome (Online Mendelian Inheritance in Man [OMIM] #277000) is a congenital condition characterized by the total or partial agenesis of vagina and uterus. Agenesis can be isolated (MRKH 1) or associated with other renal, vertebral or cardiac defects (MRKH 2). Case presentation In this paper, we report a case of a Caucasian patient showing the clinical signs associated with MRKH. Array-based comparative genomic hybridization (a-CGH) analysis revealed a microduplication of approximately 3.01 megabases (Mb) located on the long arm of chromosome 22 (22q11.21). Microduplications affecting the 22q11.21 region have been shown to be associated with MRKH syndrome and Müllerian aplasia. The phenotype of patients with 22q11.2 duplication (OMIM #608363) appears extremely variable, ranging from apparently normal to mild learning difficulties or with multiple defects, sharing features with DiGeorge/velocardiofacial (DGS/VCFS) syndrome. Conclusions The altered gene expression together with other genetic, nongenetic, epigenetic or environmental factors can cause the extremely variable phenotype in patients carrying such duplication. Therefore, we can consider MRKH syndrome to be one of the clinical features of DGS/VCFS syndrome.
- Subjects :
- 0301 basic medicine
medicine.medical_specialty
46, XX Disorders of Sex Development
Case Report
030105 genetics & heredity
Congenital Abnormalities
03 medical and health sciences
Mayer-Rokitansky-Küster-Hauser syndrome
Gene duplication
OMIM : Online Mendelian Inheritance in Man
Humans
Medicine
Mayer-Rokitansky-Kuster-Hauser Syndrome
In patient
Mullerian Ducts
Gynecology
Comparative Genomic Hybridization
business.industry
General Medicine
medicine.disease
Mild learning difficulties
030104 developmental biology
Agenesis
Vagina
Multiple congenital anomalies
Female
business
Müllerian anomalies
Chromosome 22
Comparative genomic hybridization
22q11.2 microduplication
Subjects
Details
- Language :
- English
- ISSN :
- 17521947
- Volume :
- 15
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- Journal of Medical Case Reports
- Accession number :
- edsair.doi.dedup.....d64bb2eeb4d611894c52917fe15469cf