Chromosome 2q37 Deletion Syndrome

Last update 23 Jan 2025

Basic Info

Synonyms

2q37 deletion syndrome, 2q37 microdeletion syndrome, ALBRIGHT HEREDITARY OSTEODYSTROPHY-LIKE SYNDROME

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Introduction

A syndrome of high phenotypic variability caused by contiguous gene deletions in 2q37. The inheritance is autosomal dominant. The condition may be characterized by brachydactly type E; mental retardation; short stature; and other skeletal, cardiovascular, and neurologic manifestations.

Clinical Trials associated with Chromosome 2q37 Deletion Syndrome

NCT01238250

/ RecruitingNot ApplicableIIT

Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight

Simons Searchlight is an observational, online, international research program for families with rare genetic variants that cause neurodevelopmental disorders and may be associated with autism. Simons Searchlight collects medical, behavioral, learning, and developmental information from people who have these rare genetic changes. The goal of this study is to improve the clinical care and treatment for these people. Simons Searchlight partners with families to collect data and distribute it to qualified researchers.

Start Date01 Oct 2010

Sponsor / Collaborator

The Children's Hospital Corp.

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100 Clinical Results associated with Chromosome 2q37 Deletion Syndrome

100 Translational Medicine associated with Chromosome 2q37 Deletion Syndrome

0 Patents (Medical) associated with Chromosome 2q37 Deletion Syndrome

Literatures (Medical) associated with Chromosome 2q37 Deletion Syndrome

01 Sep 2024·Cardiology in the Young

From diagnosis to postoperative challenges: a comprehensive case report on 2q37 deletion syndrome with CHD

Article

Author: Sasaki, Hanae ; Kitagawa, Yosuke ; Miura, Fumitake ; Kowatari, Ryosuke ; Shimada, Jun ; Daitoku, Kazuyuki ; Minakawa, Masahito

AbstractChromosomal 2q37 deletion syndrome, marked by developmental delays, distinctive facial features, and a spectrum of congenital anomalies, presents significant challenges in the cardiac management of affected individuals. This paper details the case of an 8-month-old male with 2q37 deletion syndrome, manifesting atrial and ventricular septal defects, patent ductus arteriosus, and right ventricular outflow tract stenosis, leading to a demanding postoperative course. Despite an initially stable post-surgery phase, the onset of junctional ectopic tachycardia necessitated prolonged veno-arterial extracorporeal membrane oxygenation support, highlighting the syndrome’s potential for intricate postoperative courses. The complexities encountered in this case, including extended renal replacement therapy and delayed thoracic closure, underscore the syndrome’s multisystem impact and the critical need for tailored, multidisciplinary care approaches. This report contributes to the growing body of knowledge on the cardiac implications of 2q37 deletion syndrome, emphasising the importance of individualised surgical strategies and the ongoing exploration of genotype–phenotype correlations in this rare genetic disorder.

01 Feb 2024·Journal of Pediatric and Adolescent Gynecology

A Case Report of Familial Mayer-Rokitansky-Küster-Hauser Syndrome as Part of the Phenotypic Spectrum of the 2q37 Deletion

Author: Diamant, Hagit ; Kremer, Einav ; Daum, Hagit ; Meiner, Vardiella ; Frumkin, Ayala ; Bauman, Dvora ; Harel, Iris

We performed a genetic investigation into the case of an inherited Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Our patients were an adolescent and her mother, both with MRKH syndrome. The delivery of a biological offspring was achieved via a gestational carrier. Karyotype and exome sequencing were used to complete a three-generation genetic analysis of the family. Both the mother and her daughter harbored a deletion of 4 Mb at the locus of 2q37, a syndrome rarely described in association with MRKH. No pathogenic single-nucleotide variant relevant to the phenotype was found. The deletion was not inherited from either parent of the mother. In addition, some physical findings suggesting 2q37 deletion syndrome were found in our patients. We conclude that when combined with the use of a gestational carrier or uterine transplantation, the identification of a genetic cause for MRKH may enable the application of preimplantation genetic testing on embryos, thus potentially averting the transmission of the genetic anomaly to subsequent generations.

01 Nov 2023·Clinical Case Reports

A rare case of 2q37 deletion syndrome presented with patent foramen ovale

Author: Nashwan, Abdulqadir J. ; Hosny, Mohamed ; Ramadan, Abdelraouf ; Shaheen, Nour ; Zaki, Ahmed

AbstractThis case report presents a 3‐year‐old female child diagnosed with 2q37 deletion syndrome and patent foramen ovale, and the improvement in hypotonia and gross motor delay after 1 year of physical therapy. This case highlights the importance of thorough examination and diagnostic testing in identifying underlying causes of developmental delays.

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Chromosome 2q37 Deletion Syndrome

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