ArticleJournal of medical genetics1997
Chromosome 22q11 deletion presenting as the Potter sequence.
Article in Journal of medical genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed.
- Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: advancements and implications.Frontiers in endocrinology · 2024Review
- Review
- Studying Müllerian duct anomalies - from cataloguing phenotypes to discovering causation.Disease models & mechanisms · 2021Review
- Reproductive Health Issues for Adults with a Common Genomic Disorder: 22q11.2 Deletion Syndrome.Journal of genetic counseling · 2015Article
- Cleft palate, retrognathia and congenital heart disease in velo-cardio-facial syndrome: a phenotype correlation study.International journal of pediatric otorhinolaryngology · 2011Article
- Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci.Orphanet journal of rare diseases · 2011Article
- High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasia.Journal of medical genetics · 2011Article
- Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports.Orphanet journal of rare diseases · 2009Article
- Velo-cardio-facial syndrome: 30 Years of study.Developmental disabilities research reviews · 2008Review
- Primary amenorrhea and absent uterus in the 22q11.2 deletion syndrome.American journal of medical genetics. Part A · 2007Article
- Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.Orphanet journal of rare diseases · 2007Review
- Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations.Journal of medical genetics · 2005Article
- Phenotype of adults with the 22q11 deletion syndrome: A review.American journal of medical genetics · 1999Review
- Absence of a del(22q11) in a patient with the 3C (craniocerebellocardiac) syndrome.Journal of medical genetics · 1998Article
- A mother with VCFS and unilateral dysplastic kidney and her fetus with multicystic dysplastic kidneys: additional evidence to support the association of renal malformations and VCFS.Journal of medical genetics · 1998Article
- Mayer-Rokitansky-Küster-Hauser syndrome with inguinal hernia, left renal fusion, and malrotation: a rare case.Therapeutic advances in urologyArticle
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5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A female fetus with the Potter sequence, caused by unilateral renal agenesis and contralateral multicystic renal dysplasia, was found to have a submicroscopic deletion in chromosome 22q11. The only associated anomaly was agenesis of the uterus and oviducts (Von Mayer-Rokitansky-Küster anomaly). The deletion was inherited from the father, who presented the typical velocardiofacial syndrome phenotype, but no urological anomalies. This observation further extends the clinical spectrum associated with a deletion in 22q11.
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